Nephrology for the Family Physician - O.I. Bakaliuk 2003

Basics of Differential Diagnosis (Syndromic Diagnosis) in Nephrology

Class="center">Blood Plasma Acid-Base Balance Parameters

Clinical symptoms of electrolyte imbalance (V.D. Malyshev, 1985)

Cytology/practical/136.html">Differential Diagnosis OF Metabolic Alkalosis

1. With decreased sodium chloride levels:

1.1. Gastrointestinal disorders:

1.1.1. Vomiting.

1.1.2. Gastric suction/drainage.

1.1.3. Villous Adenoma of the colon.

1.1.4. Chloride diarrhea.

1.2. Diuretic therapy.

1.3. Rapid correction of chronic hypercapnia.

1.4. McCance syndrome.

1.5. Pseudo-Bartter syndrome.

2. With normal sodium chloride levels:

2.1. Increased mineralocorticoid activity:

2.1.1. Hyperaldosteronism.

2.1.2. Cushing's syndrome.

2.1.3. Bartter's syndrome.

3. Conditions not classified as diseases:

3.1. Excessive administration of alkaline solutions.

3.2. Non-parathyroid hypercalcemia.

3.3. Massive blood transfusions.

3.4. Glucose administration following starvation/fasting.

3.5. High doses of penicillin or carbenicillin.

3.6. Recovery complicated by organic acidosis.

3.7. Administration of antacids and sorbents in renal failure.

Differential diagnosis of high anion gap metabolic acidosis

1. Increased acid production:

1.1. Diabetic ketoacidosis.

1.2. Alcoholic ketoacidosis.

1.3. Starvation ketoacidosis.

1.4. Lactic acidosis:

1.4.1. Secondary to Hypertension, hypovolemia, or hypoxemia.

1.4.2. Secondary to toxemias.

1.4.3. Enzyme deficiencies.

2. Intoxications:

2.1. Salicylates.

2.2. Methanol.

2.3. Ethylene glycol.

2.4. Paraldehyde.

3. Renal failure:

3.1. Acute.

3.2. Chronic.

Differential diagnosis of normal anion gap metabolic acidosis

1. Renal Tubular Acidosis.

2. Uremic (late) acidosis.

3. Gastrointestinal losses:

3.1. Diarrhea.

3.2. Pancreatic fistula.

3.3. Shwachman syndrome.

4. Ureteroenteroanastomosis.

5. Medication use:

5.1. Acetazolamide.

5.2. Cholestyramine.

5.3. Acidifying agents: ammonium chloride, calcium chloride, Arginine hydrochloride, Lysine hydrochloride.

5.4. Aldactone (in patients with liver cirrhosis).

6. Rapid Hydration.

7. Correction of respiratory alkalosis.

8. Overeating.

9. Aase syndrome.

10. Reye syndrome.

11. Heyde syndrome.

Differential Diagnosis of Hypokalemia

1. Inadequate dietary potassium intake.

1.1. Partial starvation (Aykroyd-Smith syndrome).

2. Gastrointestinal losses:

2.1. Vomiting.

2.2. Diarrhea.

2.3. Chronic laxative abuse.

2.4. Verner-Morrison syndrome.

2.5. McKittrick-Wheelock syndrome.

2.6. Ménétrier's disease.

2.7. Zieve syndrome.

3. Renal losses:

3.1. Diuretics.

3.2. Increased mineralocorticoid activity:

3.2.1. Primary aldosteronism (adenoma, bilateral adrenal hyperplasia).

3.2.2. Cushing's syndrome.

3.2.3. Accelerated hypertension.

3.2.4. Renovascular arterial hypertension.

3.2.5. Renin-producing tumors.

3.2.6. Adrenogenital syndrome.

4. Bartter syndrome.

5. Westphal syndrome.

6. Liddle syndrome.

7. Albright-Hadorn syndrome.

8. Renal tubular acidosis.

9. Metabolic alkalosis.

10. Debré-de Toni-Fanconi Syndrome.

11. Albright's hereditary osteodystrophy.

12. Schwartz-Bartter syndrome.

13. Acute hyperventilation.

14. Starvation.

15. Ureterosigmoidostomy.

16. Administration of Antibiotics

16.1. Carbenicillin.

16.2. Amphotericin.

16.3. Gentamicin.

17. Diabetic ketoacidosis.

18. Acute leukemia.

19. Cellular hypokalemia:

19.1. Alkalosis.

19.2. Periodic paralysis.

19.3. Barium poisoning.

19.4. Insulin administration.

Differential diagnosis of hyperkalemia

1. Pseudohyperkalemia:

1.1. Improper blood collection for testing.

1.2. Hematological disorders with elevated leukocyte and platelet counts.

2. Exogenous potassium load:

2.1. Oral or intravenous administration of potassium supplements.

2.2. Blood transfusions.

3. Cellular shifts of potassium:

3.1. Tissue damage (trauma, Burns, rhabdomyolysis).

3.2. Tumor Cell destruction.

3.3. Digitalis toxicity.

3.4. Acidosis.

3.5. Hyperkalemic periodic paralysis.

3.6. Hyperosmolality.

3.7. Arginine infusion.

4. Decreased renal potassium excretion:

4.1. Acute Kidney Injury.

4.2. Chronic Kidney Disease.

4.3. Use of potassium-sparing diuretics.

5. Mineralocorticoid deficiency:

5.1. Addison's disease.

5.2. Bilateral adrenalectomy.

5.3. Hypoaldosteronism:

5.3.1. Hyporeninemic hypoaldosteronism.

5.3.2. Heparin therapy.

5.3.3. Specific enzyme defects.

5.3.4. Tubular dysfunctions.

6. Congenital adrenal hyperplasia (Debré-Fibiger syndrome).

7. McCance syndrome.

8. Schmidt syndrome.

8. Primary potassium transport defect.

9. Use of ACE inhibitors.

Differential diagnosis of hypernatremia

1. Extrarenal Water losses:

1.1. Gastrointestinal:

1.1.1. Infantile gastroenteritis (neonatal gastroenteritis).

1.1.2. Tube feeding in unconscious patients — increased osmotic load.

1.1.3. Gastrointestinal bleeding.

1.2. Insensible water loss through the Skin:

1.2.1. Unconscious state.

1.2.2. Burns.

1.2.3. Excessive sweating (diaphoresis).

1.3. Respiratory water loss through the Lungs.

2. Renal water losses:

2.1. Acute kidney injury, recovery phase of diuresis.

2.2. Postobstructive diuresis.

2.3. Diabetes insipidus.

2.4. Osmotic diuretics - urea, mannitol.

3. Elevated sodium levels due to restricted access to water.

4. Central Nervous system lesions:

4.1. Impaired perception of thirst.

4.2. Comatose or soporose state of the patient.

5. Adrenal hyperfunction:

5.1. Cushing's syndrome.

5.2. Conn's syndrome.

6. Reye's syndrome.

Differential diagnosis of hyponatremia

1. Extracellular fluid - hypovolemia:

1.1. Renal losses:

1.1.1. Diuretics.

1.1.2. Adrenal insufficiency (Debré-Fibiger syndrome).

1.1.3. Salt-wasting nephropathy.

1.1.4. Renal tubular acidosis with bicarbonaturia.

1.1.5. Osmotic diuretics (glucose, mannitol, urea).

1.2. Extrarenal losses:

1.2.1. Vomiting.

1.2.2. Diarrhea.

2. Extracellular fluid - normo-, hypervolemia:

2.1. Hypothyroidism.

2.2. Syndrome of inappropriate antidiuretic hormone secretion.

2.3. Severe pain, emotional stress.

2.4. Glucocorticoid deficiency.

2.5. De Toni-Debré-Fanconi Syndrome.

2.6. McKittrick-Wheelock syndrome.

2.7. Ménétrier's disease.

2.8. Thorn's syndrome.

2.9. Schmidt syndrome.

2.10. Sheehan-Simmonds syndrome.

3. Extracellular fluid - edema:

3.1. Nephrotic Syndrome.

3.2. Liver cirrhosis.

3.3. Congestive heart failure.

3.4. Renal failure (acute or chronic).

4. Uncommon causes.

4.1. Laboratory errors.

4.2. Hypertriglyceridemia, hypercholesterolemia, hyperproteinemia.

Differential diagnosis of hyperchloremia

1. Respiratory alkalosis.

2. Laboratory errors.

3. De Toni-Debré-Fanconi syndrome.

4. Albright-Hadorn syndrome.

5. Lowe syndrome.

Differential diagnosis of hypochloremia

1. Vomiting.

2. Hypochloremic alkalosis in pyloric stenosis.

3. Dilutional hypochloremia.

4. Asymptomatic forms resulting from nutritional disorders.

5. Hypochloremic acidosis in Diabetes Mellitus.

6. Hypochloremic acidosis in uremia.

7. Boyd-Stearns syndrome.

8. Debré-de Toni-Fanconi syndrome.

9. McKittrick-Wheelock syndrome.

10. Ménétrier's disease.

11. Reichmann's syndrome.

12. Sheehan-Simmonds syndrome.

Differential diagnosis of hypercalcemia

1. Hyperparathyroidism:

1.1. Parathyroid adenoma.

2. Familial primary hyperparathyroidism.

3. Acute hyperparathyroidism:

3.1. Postoperative period.

4. Secondary hyperparathyroidism:

4.1. Kidney disease.

5. Pseudohyperparathyroidism:

5.1. Vitamin D₃ hypervitaminosis.

6. Malignant tumors and their metastases.

7. Burnett's syndrome.

8. Paget's Disease

9. Rathbun syndrome.

10. Kaplan-Klyachkin syndrome.

11. Slocumb syndrome.

12. Thyrotoxicosis.

13. Boeck's sarcoidosis.

14. Leukemias.

15. Adrenal insufficiency.

16. Cushing's syndrome.

17. Gaucher disease.

18. Van Lohuizen syndrome.

19. Acromegaly.

20. Hamman-Rich syndrome.

21. Berylliosis.

22. Neurofibromatosis.

23. Multiple myeloma.

24. Idiopathic hypercalcemia (Donohue, Rathbun, and Fahr syndromes).

25. Fanconi-Schlesinger syndrome.

26. Hypersensitivity to vitamin D₃.

27. Hyperphosphatasia.

Differential diagnosis of hypocalcemia

1. Hypoparathyroidism:

1.1. Parathyroidectomy.

1.2. Radioactive irradiation of the Parathyroid glands.

1.3. Parathyroid tumors.

1.4. Inflammation of the parathyroid glands.

1.5. Vascular and toxic lesions of the parathyroid glands.

1.6. Birth injury of the parathyroid glands.

1.7. Idiopathic familial hypoparathyroidism.

2. Albright's pseudohypoparathyroidism.

3. Martin-Albright syndrome.

4. Secondary hypoparathyroidism.

5. Acute pancreatitis.

6. Impaired absorption and hypoproteinemia:

6.1. Malnutrition (Aykroyd-Smith syndrome).

6.2. Enteritis.

6.3. Malabsorption syndrome.

6.4. Blind loop syndrome.

6.5. Intestinal fistulas.

6.6. Steatorrhea.

6.7. Obstructive jaundice.

6.8. Pancreatic exocrine insufficiency.

6.9. Cystic fibrosis of the pancreas.

6.10. Whipple's disease.

7. Idiopathic hypercalciuria.

8. Rickets and spasmophilia in children.

9. Osteomalacia of various origins.

10. Kidney diseases with chronic renal failure.

11. Renal tubular acidosis.

12. De Toni-Debre-Fanconi syndrome.

13. DiGeorge syndrome.

14. Fanconi-Albertini-Zellweger syndrome.

15. Transfusion of blood containing oxalates and citrates.

16. Oxalic acid or fluoride poisoning.

Differential diagnosis of hyperuricemia

1. Overproduction of uric acid:

1.1. Primary Gout.

1.2. Myeloproliferative disorders.

1.3. Lymphoma.

1.4. Hemoglobinopathies.

1.5. Hemolytic anemia.

1.6. Psoriasis.

1.7. Leukemias.

1.8. Pneumonia.

1.9. Tumor Chemotherapy (cytostatics).

1.10. Alström-Hallgren syndrome.

1.11. Kaplan-Kliatzkin syndrome.

1.12. Lesch-Nyhan syndrome.

2. Decreased uric acid excretion:

2.1. Chronic kidney disease.

2.2. Arsenic poisoning nephropathy.

2.3. Drugs: diuretics (excluding veroshpiron), low-dose aspirin.

2.4. Lactic acidosis: alcoholism, Preeclampsia.

2.5. Ketoacidosis: diabetes mellitus, starvation.

2.6. Hyperparathyroidism.

2.7. Arterial hypertension.

3. The Mechanism of hyperuricemia is unknown:

3.1. Sarcoidosis.

3.2. Obesity.

3.3. Hypoparathyroidism.

3.4. Paget's disease.

3.5. Down syndrome.

Differential diagnosis of hypouricemia

1. Reduced synthesis:

1.1. Congenital xanthine oxidase deficiency (Sperling syndrome).

1.2. Liver disease.

1.3. Use of allopurinol.

2. Increased excretion:

2.1. "Isolated" defect of renal uric acid transport:

2.1.1. Idiopathic.

2.1.2. Neoplastic processes.

2.1.3. Liver disease.

2.2. Generalized defect of renal uric acid transport (Fanconi syndrome):

2.2.1. Idiopathic.

2.2.2. Wilson-Konovalov disease.

2.2.3. Cystinosis.

2.2.4. Multiple myeloma.

2.2.5. Exposure to heavy metals.

2.2.6. Galactosemia.

2.2.7. Hereditary fructose intolerance.

2.2.8. Use of expired Tetracyclines.

2.2.9. Bronchogenic carcinoma.

2.2.10. Liver disease and alcoholism.

2.3. Medications:

2.3.1. Estrogens.

2.3.2. Dicumarol.

2.3.3. Orotic acid.

2.3.4. Tetracycline.

2.3.5. Phenylbutazone.

2.3.6. Probenecid.

2.3.7. Salicylates.

2.3.8. ACTH, prednisolone, cortisone.

2.3.9. Sulfinpyrazone.

3. Mechanism unknown:

3.1. Pernicious anemia.

3.2. Acute intermittent porphyria.

Differential Diagnosis of Type I Renal Tubular Acidosis (Distal Type)

1. Primary:

1.1. Idiopathic.

1.2. Genetic.

2. Genetically determined systemic disorders:

2.1. Marfan Syndrome.

2.2. Sickle cell anemia.

2.3. Carbonic anhydrase I deficiency.

2.4. Galactosemia.

2.5. Hereditary fructose intolerance.

2.6. Ehlers-Danlos syndrome.

2.7. Fabry disease.

3. Metabolic Disorders:

3.1. Idiopathic hypercalciuria – sporadic and congenital.

3.2. Hyperthyroidism.

3.3. Primary hyperparathyroidism.

3.4. Vitamin D₃ intoxication.

3.5. Mineralocorticoid deficiency.

4. Hypergammaglobulinemic disorders:

4.1. Amyloidosis.

4.2. Idiopathic hyperglobulinemia.

4.3. Hyperglobulinemic purpura.

4.4. Cryoglobulinemia.

5. Medullary sponge kidney.

6. Liver cirrhosis.

7. Wilson's disease.

8. Drug-induced:

8.1. Amphotericin B.

8.2. Vitamin D₃.

8.3. Lithium preparations.

8.4. Analgesics.

9. Pyelonephritis.

10. Kidney transplantation.

11. Obstructive nephropathies.

12. Autoimmune diseases:

12.1. Sjögren's syndrome.

12.2. Thyroiditis.

12.3. Pulmonary fibrosis.

12.4. Primary biliary cirrhosis.

12.5. Systemic lupus erythematosus.

12.6. Chronic active hepatitis.

13. Multiple myeloma.

14. Hodgkin's lymphoma.

Differential diagnosis of type II renal tubular acidosis (proximal type)

1. Primary.

1.1. Sporadic.

1.2. Genetically determined Fanconi syndrome.

2. Inborn errors of METABOLISM:

2.1. Wilson's disease.

2.2. Cystinosis.

2.3. Others: tyrosinemia, Lowe syndrome, hereditary fructose intolerance, Pyruvate carboxylase deficiency, galactosemia.

3. Metabolic disorders:

3.1. Vitamin D₃ deficiency.

3.2. Primary or secondary hyperparathyroidism.

3.3. Pseudovitamin D₃ deficiency.

4. Disorders of protein metabolism:

4.1. Nephrotic syndrome.

4.2. Multiple myeloma.

4.3. Sjögren's syndrome.

4.4. Amyloidosis.

4.5. Other dysproteinemias.

5. Polycystic Kidney Disease.

6. Kidney transplantation.

7. Medications:

7.1. Expired tetracyclines.

7.2. 6-mercaptopurine.

7.3. Sulfonamides.

7.4. Acetazolamide.

8. Heavy metals:

8.1. Lead.

8.2. Cadmium.

8.3. Mercury.

Differential diagnosis of type IV renal tubular acidosis

1. Aldosterone deficiency:

1.1. Combined aldosterone and glucocorticoid deficiency:

1.1.1. Addison's disease.

1.1.2. Bilateral adrenalectomy.

1.1.3. Congenital steroidogenesis disorders - 21-hydroxylase deficiency (congenital adrenal hyperplasia).

1.2. Selective aldosterone deficiency:

1.2.1. Congenital defects in aldosterone Biosynthesis - corticosterone methyloxidase deficiency.

1.2.2. Secondary deficiency of renin secretion:

1.2.2.1. Diabetic nephropathy.

1.2.2.2. Chronic tubulointerstitial diseases with glomerular impairment.

1.2.2.3. Indomethacin use.

1.2.3. Chronic idiopathic hypoaldosteronism in young individuals and the elderly.

2. Pseudohyperaldosteronism (exhaustion of the renal response to aldosterone with secondary hyperreninemia and hyperaldosteronism):

2.1. Classic neonatal hyperaldosteronism.

2.2. Chronic tubulointerstitial lesions with glomerular impairment ("salt-wasting nephritis").

2.3. Drugs: spironolactone, amiloride, triamterene.

3. Exhaustion of the renal response to aldosterone:

3.1. Selective tubular dysfunction with decreased renin secretion.

3.2. Chronic tubulointerstitial lesions with glomerular impairment.

3.3. Kidney transplantation with impaired renin secretion.

3.4. Lupus nephritis with impaired renin secretion.

4. Other conditions:

4.1. Chronic Pyelonephritis.

4.2. Acute Glomerulonephritis.

4.3. Amyloidosis.

Differential diagnosis of acute renal function deterioration

1. Prerenal failure:

1.1. Hypovolemia of various etiologies.

1.2. Cardiovascular failure.

2. Postrenal failure:

2.1. Extrarenal obstruction:

2.1.1. Occlusion or stricture of the Ureters or Urethra (by pus, blood clots, or necrotic papillae).

2.1.2. Tumors of the bladder, prostate, or retroperitoneal space.

2.1.3. Prostatitis.

2.1.4. Urolithiasis.

2.1.5. Surgical interventions.

2.2. Intrarenal crystal occlusion (in the pelvic region).

2.3. Bladder rupture.

3. Kidney diseases:

3.1. Vascular:

3.1.1. Vasculitis.

3.1.2. Malignant arterial hypertension.

3.1.3. Thrombocytopenic purpura.

3.1.4. Scleroderma.

3.1.5. Arterial or venous occlusion.

3.2. Glomerulonephritis.

3.3. Tubulointerstitial Nephropathies.

3.4. Acute tubular necrosis:

3.4.1. Post-ischemic.

3.4.2. Pigment-induced:

3.4.2.1. Hemolysis.

3.4.2.2. Rhabdomyolysis.

3.4.3. Toxin-induced:

3.4.3.1. Antibiotics.

3.4.3.2. Contrast agents:

3.4.3.3. Anesthetics.

3.4.3.4. Heavy metals.

3.4.3.5. Organic Solvents.

3.4.3.6. Nonsteroidal anti-inflammatory drugs.

3.4.4. Pregnancy-related:

3.4.4.1. Septic abortion.

3.4.4.2. Uterine Hemorrhage.

3.4.4.3. PE, Eclampsia.

3.4.5. Hypercalcemia.

3.4.6. Pyelonephritis.

Differential diagnosis of oliguria

1. Prerenal:

1.1. Gastrointestinal:

1.1.1. Vomiting.

1.1.2. Nasogastric tube drainage.

1.1.3. Diarrhea.

1.2. Prior diuretic use.

1.3. Fluid loss through the skin:

1.3.1. Burns.

1.3.2. Excessive sweating.

1.4. Hemorrhage.

1.5. Hypoalbuminemia.

1.6. Sepsis.

1.7. Cardiac pathology:

1.7.1. Valvular heart disease.

1.7.2. Constrictive pericarditis.

1.7.3. Cardiac tamponade.

1.8. Vascular Diseases:

1.8.1. Renal artery disease.

1.8.2. Nephroangiosclerosis.

1.8.3. Vasculitis.

2. Renal:

2.1. Glomerulonephritis.

2.2. Acute tubular necrosis:

2.2.1. Ischemic (Shock, trauma, sepsis).

2.2.2. Administration of nephrotoxic antibiotics.

2.2.3. Heavy metal exposure.

2.2.4. Endogenous intoxication.

2.3. Acute tubulointerstitial nephropathy:

2.3.1. Nephrotoxic antibiotics.

2.3.2. Nonsteroidal anti-inflammatory drugs.

2.3.3. Diuretics.

2.3.4. Infectious diseases.

2.3.5. Idiopathic nephropathy.

2.4. Vascular processes:

2.4.1. Aortic atheromatosis.

2.4.2. Bacterial endocarditis.

2.5. Systemic vasculitis.

2.6. Malignant arterial hypertension.

2.7. Hematological disorders:

2.7.1. Thrombocytopenic purpura.

2.7.2. Hemolytic-uremic syndrome.

3. Postrenal:

3.1. Ureteral obstruction:

3.1.1. By a calculus.

3.1.2. By a blood clot.

3.1.3. By tumor Cells of the Ureter or Urinary Bladder.

3.1.4. Fibrosis.

3.1.5. Malignant retroperitoneal neoplasms.

3.2. Urinary Tract obstruction:

3.2.1. Prostatic Adenoma.

3.2.2. Prostate Cancer.

3.2.3. Cancer of the bladder neck.

3.3. Urethral stricture.

3.4. Stenosis of the external urethral meatus.

Differential diagnosis of polyuria

1. Congenital/familial conditions.

2. Renal diseases:

2.1. Post-obstructive uropathies.

2.2. Unilateral renal artery stenosis.

2.3. Kidney transplantation.

2.4. Acute tubular necrosis.

2.5. Polycystic kidney disease.

2.6. Medullary sponge kidney.

2.7. Pyelonephritis.

2.8. Clinically manifest renal failure.

2.9. Hydronephrosis.

2.10. Systemic lupus erythematosus.

2.11. Tubulointerstitial nephropathies with or without renal tubular acidosis.

3. Electrolyte disorders:

3.1. Hypokalemia.

3.2. Hypercalcemia.

4. Medications:

4.1. Lithium.

4.2. Amphotericin.

4.3. Norepinephrine.

4.4. Vinblastine.

4.5. Colchicine.

4.6. Gentamicin.

4.7. Methicillin.

4.8. Radiocontrast agents.

4.9. Osmotic diuretics.

4.10. Furosemide and ethacrynic acid.

5. Systemic diseases:

5.1. Sickle cell anemia.

5.2. Multiple myeloma.

5.3. Amyloidosis.

5.4. Sjögren's syndrome.

5.5. Sarcoidosis.

6. Dietary errors:

6.1. High fluid intake.

6.2. Reduced sodium chloride intake.

6.3. Reduced protein intake.

7. Central diabetes insipidus:

7.1. Idiopathic.

7.2. Sporadic.

7.3. Familial.

7.4. HEAD injury and post-traumatic sequelae.

7.5. Neurosurgical interventions.

7.6. Tumors.

7.6.1. Craniopharyngioma.

7.6.2. Pinealoma.

7.6.3. Tumor metastases.

7.7. Cushing's Disease and syndrome.

8. Lymphomas/leukemia.

9. Infectious and granulomatous diseases:

9.1. Encephalitis.

9.2. Meningitis.

9.3. Tuberculosis.

9.4. Syphilis.

9.5. Sarcoidosis.

9.6. Eosinophilic granuloma.

10. Vascular disorders:

10.1. Thrombosis.

10.2. Hemorrhage.

11. Sheehan-Simmonds syndrome.

12. Diabetes insipidus:

12.1. Hypothalamic diabetes insipidus.

12.1.1. Traumatic Brain injury.

12.1.2. Radiation injury.

12.1.3. Suprasellar Brain Tumors.

12.2. Idiopathic diabetes insipidus.

12.3. Congenital nephrogenic diabetes insipidus.

12.4. Secondary nephrogenic diabetes insipidus (polyuria-polydipsia syndrome).

12.5. Fanconi syndrome.

12.6. Abderhalden-Fanconi syndrome.

12.7. Albright-Butler syndrome.

12.8. Fanconi-Schlesinger syndrome.

12.9. Fröhlich syndrome.

12.10. Hand-Schüller-Christian disease.

12.11. Burnett syndrome.

13. Diabetes mellitus

13.1. Primary type I and type II diabetes mellitus.

13.2. Secondary diabetes mellitus:

13.2.1. Acromegaly.

13.2.2. Pheochromocytoma.

13.2.3. Thyrotoxicosis.

13.2.4. Achard-Thiers syndrome.

13.2.5. Schmidt syndrome.

14. Endocrine disorders:

14.1. Hyperparathyroidism.

14.2. Conn's syndrome.

14.3. Bartter syndrome.

14.4. Pseudo-Conn's syndrome.

15. Liver diseases:

15.1. Primary biliary cirrhosis.

15.2. Chronic active hepatitis.

16. Multiple myeloma.

17. Paroxysmal myoplegia.

18. Primary psychogenic polyuria.

Differential diagnosis of Hematuria

1. Kidneys:

1.1. Glomerulonephritis.

1.2. IgA nephropathy.

1.3. Alport syndrome.

1.4. Fabry disease.

1.5. Benign familial hematuria.

1.6. Severe acute pyelonephritis.

1.7. Renal medullary necrosis.

1.8. Malignant neoplasms (primary, metastatic).

1.9. Arteriovenous pathology.

1.10. Polycystic kidney disease.

1.11. Solitary cysts.

1.12. Urolithiasis (kidney stone disease).

1.13. Renal trauma.

2. Ureters:

2.1. Tumors.

2.2. Calculi.

3. Urinary bladder:

3.1. Tumors.

3.2. Cystitis.

3.3. Calculi.

3.4. Trauma.

4. Prostate:

4.1. Prostatitis.

4.2. Tumors.

5. Urethra:

5.1. Urethritis.

5.2. Trauma.

6. Hemostatic disorders of various origins.

Main causes of urinary tract obstruction

1. Lumen:

1.1. Calculus.

1.2. Blood clot.

1.3. Caseous or necrotic debris.

1.4. Necrotic papilla.

2. Walls:

2.1. Tumor.

2.2. Post-traumatic, post-lithic, post-manipulation, postoperative, or post-infectious fibrosis.

2.3. Congenital bladder neck stricture.

3. Extrinsic causes:

3.1. Foley syndrome.

3.2. Retroperitoneal tumor.

3.3. Retroperitoneal fibrosis.

3.4. Prostatic adenoma.

3.5. Phimosis.

3.6. Accidental ureteral ligation during surgery.

4. Functional causes (congenital neuromuscular defects of the pelviureteric junction, ureters, and urinary bladder neck).

Syndromes characterized clinically by impaired electrolyte Homeostasis and/or altered renal Structure and function

Abderhalden–Fanconi syndrome (E. Abderhalden, G. Fanconi, cystinosis maligna, diabetes aminoacidicus, nanosomia renalis, rhachiris renalis) is a congenital disorder of sulfur-containing Amino acid metabolism with an Autosomal Recessive Inheritance pattern and an incidence of 1:600,000.

The disease manifests in the late first or early second half of the first year of life. Clinical Features include polydipsia, nanism (growth retardation), rachitic and pseudorachitic bone changes, spontaneous fractures, thermal instability, Skeletal Muscle asthenia due to hypokalemia, constipation, nephrosclerosis without hypertension, polyuria, polydipsia, and hypo- or isosthenuria. Cystine crystals are found in the cornea, kidneys, liver, Spleen, Lymph Nodes, and Bone Marrow. Urinary excretion of amino nitrogen (exceeding 2 mg/kg body weight/day) and phosphates is elevated. Without Treatment, death from uremia or so-called electrolyte death occurs within 6–8 years.

Addison's disease (Th. Addison, morbus bronzeus, melasma suprarenale, hypocorticismus) is a symptom complex of chronic adrenal insufficiency (typically acquired due to autoimmune destruction of the Adrenal Glands, amyloidosis [Abercrombie's syndrome, J. Abercrombie], tuberculosis, or hemorrhage, and more rarely inherited in an autosomal recessive manner).

The Pathogenesis is centered on a deficiency in glucocorticoid and mineralocorticoid production. Clinical manifestations include asthenia, fatigue, weight loss due to anorexia, hyperpigmentation of sun-exposed areas or regions subject to pressure and friction, nausea, a tendency toward hypoglycemia, alopecia, bradycardia, hypotension, hypothermia, dysmenorrhea, decreased libido, and a sharp decline in the body's resistance to infections. Blood tests reveal neutropenia, eosinophilia, lymphocytosis, decreased levels of glucose, sodium, and chlorides, and hyperkalemia.

Ahlström–Hallgren syndrome (C.H. Ahlström, B. Hallgren) is a complex of congenital anomalies inherited in an autosomal recessive manner, characterized by obesity, diabetes mellitus, hyperuricemia, nystagmus, strabismus, retinitis pigmentosa, and deafness. At the age of

7–8 years, retinitis progresses rapidly, leading to blindness. Following Puberty, signs of non-insulin-dependent diabetes mellitus and diabetic nephropathy emerge, progressing relentlessly and culminating in renal failure.

Andrén–Bjersing–Williams syndrome (L. Andrén, L. Bjersing, D.J. Williams) is a triad of congenital anomalies with an Autosomal dominant inheritance pattern: complete or partial absence of the lower anterior abdominal wall musculature, bilateral cryptorchidism, and hydronephrosis of the renal pelves and ureters associated with renal Dysplasia. It occurs exclusively in males.

Achard–Thiers syndrome (E.C. Achard, J. Thiers) is a combination of hirsutism and diabetes mellitus in women, hypothalamic-type obesity, male-pattern hypertrichosis including beard growth (yet without other signs of virilism), and evidence of impaired renal concentrating ability.

Bywaters syndrome (E.G.L. Bywaters) is ACUTE RENAL FAILURE resulting from massive skeletal muscle injury, characterized by anuria, hypertension, hypercreatininemia, necrotic foci in The Liver and kidneys, and hyperkalemia; upon recovery of diuresis, marked albuminuria, creatininuria, hemoglobinuria, and myoglobinuria are observed.

Barr syndrome (D. Barr, colibacillosis gravidarum) is an abdominal symptom complex in pregnant women featuring pain along the ureters and Appendix, fever, and bacteriuria; occasionally, these symptoms persist into the postpartum period, simulating puerperal infection. The Development of the syndrome is attributed to the hematogenous and lymphatic dissemination of Escherichia coli to various Organs in The Setting of constipation.

Bartter syndrome (F.C. Bartter) is a form of congenital hyperaldosteronism (autosomal recessive inheritance). The underlying Pathophysiology involves impaired tubular reabsorption of potassium and, secondarily, sodium, caused by a tubular enzymatic defect or target-cell resistance to renin, angiotensin II, and aldosterone. Consequently, feedback mechanisms trigger a sharp increase in The production of the latter. I.W. Smally et al. (1977) view Bartter syndrome as a systemic endocrine disorder—primary hyperprostaglandinism.

Clinically, patients present with asthenia, headache, polyuria, polydipsia, vomiting, and androtrophism. Growth retardation is noted in children. Laboratory findings in blood include hypokalemia, hypernatremia, hypocalcemia, hypomagnesemia, hypercholesterolemia, hyperbetalipoproteinemia, hyperreninemia, hyperaldosteronemia, and metabolic alkalosis; urinalysis reveals hyposthenuria, kaliuresis, and hyperaldosteronuria.

Baber syndrome (M.D. Baber) is a metabolic anomaly with an autosomal recessive inheritance pattern characterized by growth retardation, frequent foul-smelling diarrhea, rickets, portal cirrhosis with signs of regeneration and fatty degeneration, portal hypertension, hydronephrosis, renal pelvic fibrosis, and Aminoaciduria with excretion of high amounts of Tyrosine, Serine, Threonine, Tryptophan, Histidine, and lysine. It is observed almost exclusively in children and occasionally in adolescents; the prognosis is unfavorable, with death resulting from hepatic or renal failure.

Burnett syndrome (Ch.H. Burnett, hypercalcemia diaetetica) is a form of dyscalcemia caused by the prolonged intake of easily absorbable alkaline agents (milk, carbonates). Characteristic features include aversion to dairy products, nausea, vomiting, weakness, pruritus, calcinosis (predominantly of the cornea and conjunctiva), hypercalcemia without hypercalciuria, and a typically alkaline urine reaction. Urinary tract infections frequently supervene.

Biemond syndrome (A. Biemond) is a complex of congenital anomalies inherited in an autosomal recessive manner, comprising obesity, hypogenital infantilism with primary Amenorrhea, mental retardation, intermittent oliguria with facial edema, polydactyly, Syndactyly, bilateral iris colobomas with atrophy, and occasionally Scoliosis, congenital hip dislocation, hypospadias, and Epilepsy.

Boyd–Stearns syndrome (J.D. Boyd, G. Sterns) is a form of renal tubular insufficiency characterized by hypochloremic tubular acidosis and late-onset rickets. Clinically, patients exhibit short stature, late manifestations of rickets, polyuria, albuminuria, and intermittent glucosuria. The inheritance pattern is autosomal recessive, or more rarely, autosomal dominant.

Boichis syndrome (H. Boichis) is a renal, hepatic, and ocular anomaly with an autosomal recessive inheritance pattern, manifested by malaise, hepatosplenomegaly, dyspeptic disorders, decreased visual acuity, proteinuria, and Urinary Incontinence.

Renal findings include interstitial nephritis with medullary cysts, glomerular sclerosis, and interstitial fibrosis and sclerosis; hepatic findings reveal perilobular fibrosis, while fundoscopic examination demonstrates retinal vessel narrowing and dark mottled pigmentation of the optic disc. The prognosis is unfavorable, with death ensuing from uremia.

Van Lohuizen syndrome (C.H.J. van Lohuizen, phlebectasia congenita generalisata, cutis marmorisata teleangioectatica congenita) is an inherited vascular dysplasia associated with progeria: thin skin with a prominent vascular pattern, dilated and tortuous Veins, features of progeria (hydrocephalic Skull, prominent cranial veins, exophthalmos, microgenia, blue sclerae, senile facial appearance), and diastasis recti. Mental development is unimpaired, and blood tests show hypercalcemia.

Verner–Morrison syndrome (J.M. Verner, A.M. Morrison) is a symptom complex occurring in patients with an islet cell adenoma of the pancreas, characterized by flushing of the head and entire body, sudden facial redness, prolonged watery diarrhea, syncopal or shock-like states, signs of dehydration, a reduced circulating blood volume, hypokalemia, and impaired partial renal Functions.

Westphal syndrome (C.F.O. Westphal, paralysis familiaris paroxysmalis, paralysis periodica) is a flaccid paralysis of the upper and lower extremities inherited in an autosomal dominant or autosomal recessive manner. The disorder predominantly affects males (3:1) aged 5–20 years. Paralytic episodes occur abruptly, usually at night, preceded by a prodrome of heaviness and tightness in the muscles, and are accompanied by autonomic disturbances (dystonia, cardialgia, hyperhidrosis). In severe cases, involvement of the myocardium and visceral smooth muscle (bladder, bowel) is observed. Laboratory findings include hypokalemia and reduced blood levels of lactate and pyruvate. Electromyographic changes (absence of muscle bioelectrical activity) are crucial for diagnosis.

Wunderlich syndrome (K.R.A. Wunderlich, apoplexia perirenalis, haematoma perirenale) comprises the clinical manifestations of a perirenal hematoma: dull flank pain following trauma, transient hematuria, and subsequently varying degrees of leukocyturia and/or impaired urinary outflow due to the development of retroperitoneal fibrosis.

Gasser syndrome (C. Gasser, syndromus haemolytico-uraemicus acutus) is a constellation of hemolytic and renal symptoms most commonly observed in infants under one year of age. It typically begins with acute gastroenteritis followed by hemolytic jaundice. Clinical signs include periorbital edema, hypertension, hypertensive retinopathy, thrombocytopenic purpura, petechiae, and neurological manifestations such as disorientation, syncope, and lethargy. These are joined by renal failure accompanied by oliguria or anuria. Laboratory findings include hemolytic anemia, decreased osmotic fragility of erythrocytes, hypercreatininemia, and hyperazotemia, alongside albuminuria, hematuria, and cylindruria in the urine. The clinical course is acute, and the prognosis is poor.

von Gierke disease (E.O.C. von Gierke, glycogenosis, hepato-nephromegalia glycogenica) is a variant of Glycogen storage disease with an autosomal recessive inheritance pattern, caused by alpha-1,4-glucosidase deficiency primarily in the liver and muscles, which leads to glycogen accumulation in Tissues. The Gene is mapped to 17q23. Clinical features include short stature, facial fat deposition, marked nephromegaly and hepatomegaly, episodes of bulimia with hypoglycemia and collapse, Osteoporosis, and increased susceptibility to infections; blood tests reveal pronounced hypoglycemia, hyperketonemia, and hypercholesterolemia.

Geminne syndrome (L. Geminne, dysplasia cervico-dermo-reno-genitalis) is a form of multiple dysplasias, likely with a dominant X-linked inheritance pattern: congenital Torticollis, secondary plagiocephaly, multiple keloids and pigmented skin lesions on the chest, cryptorchidism, hypoplasia or Aplasia of the Testes, androtrophism, and unilateral Renal Hypoplasia or aplasia complicated by chronic pyelonephritis and arterial hypertension.

Gjessing syndrome (L.R. Gjessing, tyrosinemia, tyrosinosis) is an autosomal recessive disorder of tyrosine metabolism. The underlying pathology is a deficiency of n-hydroxyphenylpyruvate oxidase. Stages I and II present with symptoms of liver cirrhosis accompanied by hepatic failure, while stage III is complicated by signs of renal tubular damage, chronic renal failure, and hypophosphatemic rickets resistant to vitamin D therapy. Disease progression is somewhat mitigated by a low-tyrosine diet.

Goyer-Reynolds-Burke-Burkholder syndrome (R.A. Goyer, J. Reynolds, J. Burke, P.M. Burkholder) is an anomaly complex with an autosomal recessive inheritance pattern. Clinical manifestations include renal pathology (polycystic kidney disease, tubulointerstitial nephropathy) combined with sensorineural deafness and ichthyosis. Urinalysis shows proteinuria, hematuria, and hyperprolinuria.

Gaucher's disease (P.Ch.E. Gaucher, splenomegalia primaria idiopathica) is a lipoid storage disorder inherited in an autosomal recessive manner, caused by glucocerebrosidase deficiency. Clinical features include short stature, marked Splenomegaly, lymphadenopathy, hepatomegaly, dark yellow pigmentation of the skin and oral mucosa, frequent infantilism, hemorrhagic diathesis, and osteoporosis. Three clinical variants are distinguished: juvenile without neurological symptoms, infantile with neurological symptoms (opisthotonos, trismus, strabismus), and juvenile/adult with neurological symptoms. Blood tests show hypercalcemia, while sternal and splenic punctates reveal characteristic Gaucher cells.

Gregg syndrome (N. McAlister Gregg, hypertelorismus familiaris) is a complex of congenital anomalies in a newborn whose mother contracted rubella During the first 3 months of pregnancy: congenital cataracts, retinal anomalies, optic atrophy, microphthalmia, deafness, Congenital heart defects (predominantly septal defects and patent ductus arteriosus), microcephaly, extrapyramidal disorders, developmental delay, seizures, cryptorchidism, hypospadias, and renal anomalies (hypoplasia or aplasia).

Gruber syndrome (G.B. Gruber, dysencephalia splanchnocystica) is an autosomal recessive disorder characterized by multiple anomalies: poly- and syndactyly, hypertelorism, a broad nasal bridge, cysts (cystomas) of the kidneys, liver, pancreas, and Ovaries, and occasionally exophthalmos, hypoplasia or epispadias, bladder ectopia, meningocele, and meningocystocele.

Gutierrez syndrome (R. Gutierrez, horseshoe syndrome) is characterized by epigastric or periumbilical pain, chronic constipation, dyspeptic symptoms, hematuria, and proteinuria in patients with a Horseshoe kidney.

Down syndrome (J.L.H. Down, mongolismus-syndromus, idiotia mongoloides, syndromus acromicrie congenitalis) is a form of congenital imbecility (trisomy 21, translocation onto a D or C group chromosome, or mosaicism) with relatively preserved emotional responses and typical somatic features: short stature, shortened and curved small fingers (Siegert's sign, F. Siegert), a wide gap between the First and Second toes (Goldstein's sign, H.I. Goldstein), epicanthus, a small snub Nose, blepharitis, Conjunctivitis, an enlarged furrowed Tongue, hypersalivation, cool skin, brachydactyly, muscle hypotonia, diastasis recti, and Hypogenitalism. The incidence is 1 in 700 newborns; the probability of having such children increases with maternal age, reaching 1 in 50 after age 50.

Debré-Fibiger syndrome (R. Debré, J.A. Fibiger, intoxicatio interrenalis, intoxicatio interrenalis androgenes, dyscorticismus, hyperemesis neonatorum) is adrenocortical dysfunction in infants with congenital adrenal hyperplasia and pseudopyloric stenosis: progressive apathy and hypotonia, regurgitation, skin hyperpigmentation, signs of pseudohermaphroditism in girls, hypospadias in boys, prolonged spastic vomiting, visibly prominent gastric peristalsis, poor weight gain during the first week, signs of dehydration, frequent stools, and periodic episodes of collapse accompanied by cyanosis, tachycardia, seizures, and fainting. Such states occur without an obvious cause, last from 1 to 30 minutes, and frequently end fatally. Laboratory findings include hypochloremia, hyponatremia, hyperkalemia, and hypochloremic azotemia in the blood, alongside hyperchloruria and significantly elevated 17-Ketosteroid levels in the urine.

Dejerine-Thomas syndrome (J.J. Dejerine, A. Thomas, atrophia olivo-ponto-cerebellaris) is a symptom complex of olivopontocerebellar atrophy with an uncertain (possibly autosomal recessive) inheritance pattern: cerebellar disorders (ataxia of the lower and subsequently upper limbs), parkinsonism, and urinary disturbances, including incontinence.

Denys-Drash syndrome (P. Denys, L. Corbeel, syndromus oculo-cerebro-renalis) is a combination of cerebral, ocular, and renal anomalies with a presumed autosomal recessive inheritance pattern: intellectual disability, dwarfism, hydrophthalmos, secondary glaucoma, decreased visual acuity, hypercalciuria, and hyperphosphaturia. Blood tests show acidosis, hypokalemia, hypocalcemia, and decreased alkaline reserve.

De Toni-Debré-Fanconi syndrome (A.G. De Toni, R. Debré, G. Fanconi, syndromus dysendocrino-dysmetabolicus) is a hereditary renal tubular acidosis associated with nephrocalcinosis, late rickets, and Adiposogenital Dystrophy. The most likely inheritance pattern is autosomal recessive. Clinical features include dwarfism, obesity, hypogenitalism, Genu Valgum, osteoporosis, pseudoparesis, polydipsia, and polyphagia. Blood tests reveal hyperchloremic acidosis, hyponatremia, and hypophosphatemia. Renal involvement manifests as polyuria, calciuria, and Nephrolithiasis.

DiGeorge syndrome (A.M. DiGeorge) is an anomaly complex with an autosomal dominant inheritance pattern and variable expressivity: aplasia of the parathyroid and thymic glands, aortic arch anomalies, seizures, decreased resistance to infections (recurrent fungal, viral, and bacterial infections from the first days of life), nephrocalcinosis, and occasionally cataracts and inguinal hernias. The embryogenetic defect involves disrupted development of organs differentiating from the third and fourth pharyngeal pouches. Facial features are typical: hypertelorism, micrognathia, low-set ears, and an antimongoloid slant of the palpebral fissures. Blood tests show hypogammaglobulinemia, lymphocytopenia, hypocalcemia, hypophosphatemia, and a reduced total count of T-lymphocytes and their helper subset. Humoral Immunity is not impaired.

Donohue syndrome (leprechaunism) (W.L. Donohue, dysendocrinismus, leprechaunismus) is an endocrine disorder with an autosomal recessive inheritance pattern, associated with Mutations in the Insulin Receptor gene mapped to 19p13.3-p13.2. Clinical findings include short stature, an "elfin" facies (hypertelorism, wide palpebral fissures, flat nasal bridge, large ears), unusually large hands and feet, pronounced skin pigmentation, gynecomastia, hepatosplenomegaly, clitoral hypertrophy, physical and mental developmental delay, gynecotropism, hyperplasia of the pancreatic islets, multicystic ovaries, and nephrocalcinosis. It affects exclusively females. Blood tests reveal hypercalcemia.

Abercrombie syndrome (J. Abercrombie) encompasses clinical manifestations of genetically determined Protein metabolism defects (autosomal dominant inheritance) leading to Amyloidosis of the adrenal glands, kidneys, spleen, intestines, and liver. Three clinical variants are distinguished: type I (Portuguese), where initial symptoms appear after age 20 as rapidly progressive neurological deficits (paralysis of the lower limbs); type II (American), characterized by neurological deficits predominantly in the upper limbs, lens opacities, Carpal tunnel syndrome, and slow progression after age 40; and type III (visceral), where renal involvement with typical amyloid nephropathy and death from renal failure develops already in childhood.

Edwards syndrome (J.H. Edwards) is a complex of congenital anomalies in infants with trisomy E (18) and an X-linked recessive inheritance pattern: low birth weight relative to normal gestational age, developmental delay, deafness, peripheral nerve paresis and paralysis, ptosis, microphthalmia, micrognathia, microgenia, high-arched palate, syndactyly, joint contractures, scoliosis, hernias, epicanthus, multiple cardiac anomalies (most commonly ventricular septal defect), renal anomalies (hypoplasia, duplex kidney), and gynecotropism. Advanced maternal age is a predisposing factor.

Achor-Smith syndrome (R.W. Achor, L.A. Smith) is a metabolic disorder resulting from semi-starvation: features of sprue, pellagra-like skin lesions, hyperchromic anemia, diarrhea, weakness, hypokalemia, signs of adrenal insufficiency, achlorhydria, hypochloremia, and hypocalcemia.

Ehlers-Danlos syndrome (E. Ehlers, H.A. Danlos, fibrodysplasia elastica, fibrodysplasia elastica generalisata, dystrophia mesodermalis congenita, mesenchymatosis) is a hereditary mesenchymal dysplasia with cutaneous and articular manifestations: hyperelastic skin, hyperpigmentation, recurrent hematomas, poorly developed subcutaneous adipose tissue, Nephroptosis, joint hypermobility, frequent dislocations and subluxations, and often epicanthus, scoliosis, syndactyly, Bronchiectasis, and intellectual disability. The underlying basis of the condition is a defect in the molecular structure of Collagen.

Based on clinical course, 8 types of Ehlers-Danlos syndrome are distinguished: type I, generalized joint hypermobility; type II, hypermobility restricted to the JOINTS OF THE hands and feet; type III, joint hypermobility and musculoskeletal anomalies; type IV, arterial or ecchymotic type; type V, X-linked; type VI, ocular type; type VII, short stature and joint hypermobility; type VIII, joint hypermobility, severe periodontitis, and skin fragility.

The inheritance pattern depends on the specific type.

Hers syndrome (H.G. Hers, glycogenosis VIe, glycogenosis hepatis) is a variant of glycogen storage disease caused by a deficiency of active hepatic phosphorylase, with autosomal recessive and X-linked recessive inheritance patterns: short stature, marked hepatomegaly, and a tendency toward crises characterized by hypoglycemia, acidosis, and vomiting. Blood tests show hyperlipidemia.

Jeune syndrome (M. Jeune, dystrophia thoracica asphyctica, dystrophia thoracico-pelvico-phalangealis) is a chondrodystrophy with an autosomal recessive inheritance pattern: short and horizontally oriented Ribs, low-set clavicles, delayed Ossification of the long tubular bones and cranial sutures, and dyspnea due to chest wall restriction. Renal findings include tubular cystic dysphasia, glomerular sclerosis accompanied by hypertension, proteinuria, and rapidly progressive renal failure.

Seckel-Virchow syndrome (H.P.G. Seckel, R. Virchow, nanocephalia) is an anomaly complex with an autosomal recessive inheritance pattern: birth of a physically underdeveloped infant following a Post-term Pregnancy; characterized by microcephaly, hypertelorism, mandibular hypoplasia (so-called bird-headed profile), epicanthus, strabismus, high-arched palate, bilateral hip dislocation, aplasia of the Sternum and Patella, hepatic dysplasia, renal dystopia and hypoplasia, genital hypoplasia, and cryptorchidism.

Cushing's disease (H.W. Cushing), or primary adrenocorticism, is a disorder caused by primary pathology of subcortical and Brainstem structures (Hypothalamus, thalamus, reticular formation) with subsequent involvement of the Pituitary Gland and adrenal cortex.

The clinical symptoms are rooted in the impaired regulatory mechanisms that control the function of the hypothalamic-pituitary-adrenal axis. Clinically, patients present with a characteristic appearance (moon facies with a plethoric flush, and disproportionate fat distribution on the neck, chest, and abdomen), arterial hypertension, osteoporosis, purple striae, Carbohydrate Metabolism disorders ranging up to diabetes mellitus, dysmenorrhea, decreased libido, acne, hypertrichosis, amyotrophic syndrome, and a high susceptibility to secondary infections. Renal involvement manifests as reduced Glomerular Filtration and renal blood flow, hypercalciuria, urolithiasis, nephroangiosclerosis, and is frequently complicated by pyelonephritis.

Cushing's syndrome (secondary adrenocorticism) is caused either by a hormonally active adrenocortical tumor or by ectopic adrenocorticotropic hormone syndrome associated with neoplasms of various localizations (bronchogenic carcinoma, Lung Cancer, thymoma, gastric, esophageal, pancreatic, hepatic, and ovarian cancers).

Kaplan-Klatskin syndrome (H. Kaplan, G. Klatskin) is characterized by the coexistence of sarcoidosis, psoriasis, and gout. Laboratory findings reveal hyperuricemia, hypercalcemia, hyperglobulinemia, and elevated alkaline phosphatase levels. Symptoms of renal involvement are consistent with gouty nephropathy.

Caulk's syndrome (D. Caulk) refers to dysuria in women associated with inflammation of the periurethral glands, presenting with bladder irritation symptoms, urinary retention, and pyuria.

Conn's syndrome (J.W. Conn, hyperaldosteronismus primarius) is primary aldosteronism resulting from adrenocortical hyperplasia or a tumor. The clinical picture typically features fatigue, watery diarrhea, periodic muscle weakness with profound adynamia, increased neuromuscular excitability, arterial hypertension, polyuria, and growth and developmental delays (when onset occurs in childhood). Positive Chvostek's and Trousseau's signs (neuromuscular excitability), Arroyo's sign (C.F. Arroyo, sluggish pupillary reaction to light), and Sergent's sign (C. Sergent, where stroking the abdominal skin produces white rather than normal red lines) are observed. Laboratory tests show hypokalemia, hyperchloremia, mild alkalosis, normal calcium levels, and elevated aldosterone. Urinalysis reveals albuminuria, hyperkaliuria, hyponatremia, hypochloruria, and an alkaline urine reaction. The inheritance pattern has not been established.

Krause-Reese syndrome (A.C. Krause, A.B. Reese, retinal dysplasia, congenital encephaloophthalmic dysplasia) represents a constellation of autosomal recessive anomalies: retinal dysplasia, bilateral microphthalmia, iris anomalies, amaurosis, Hydrocephalus, cerebral and pulmonary hypoplasia, pyloric stenosis, biliary atresia, hepatomegaly, micrognathia, polydactyly, scoliosis, congenital heart defects, cryptorchidism, and renal and Ovarian Cysts.

Luder-Sheldon syndrome (J. Luder, W. Sheldon) involves impaired tubular reabsorption (presumably with an autosomal dominant inheritance pattern): mild rickets and osteoporosis. Urinalysis reveals hyperaminoaciduria, hyperphosphaturia, and glucosuria.

Lightwood-Albright syndrome (R. Lightwood, F. Albright, idiopathic hypoparathyroidism) is an autosomal recessively inherited form of hypoparathyroidism characterized by severe late-onset rickets, generalized osteoporosis with bone deformities and spontaneous fractures, short stature, muscular adynamia, paroxysmal paralysis, polyuria, and isosthenuria. The kidneys develop papillary calcinosis and stone formation. Blood tests reveal hypocalcemia and a decreased alkaline reserve, while urinalysis shows hypernatriuria, hypercalciuria, hyperkaliuria, moderate proteinuria, and a neutral urine reaction.

Lenz syndrome (W. Lenz) is characterized by X-linked recessive ocular anomalies (microphthalmia, iris colobomas), skeletal defects (long cylindrical chest, lumbar lordosis, thumb duplication, short stature, narrow shoulders), and urogenital abnormalities (ureteral dilation, renal dysplasia, bilateral cryptorchidism, hypospadias).

Lesch-Nyhan syndrome (M. Lesch, W.L. Nyhan) is defined by a triad of symptoms: encephalopathy (motor agitation, intellectual disability, aggressive and self-injurious behavior, choreiform or athetoid movements, spastic paralysis), hypotonia, and renal impairment (hyperuricosuria, urolithiasis, episodes of Renal Colic), accompanied by hyperuricemia. It predominantly affects males. The syndrome is caused by a genetic deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase, with an X-linked recessive inheritance pattern.

Lindau's syndrome (A. Lindau, angioreticuloma cerebelli) comprises congenital angioblastomatous polytopic anomalies (inherited in an autosomal dominant manner): cystic angiomas of the Cerebellum and retina, cystic degeneration of the pancreas and kidneys, and testicular tumors.

Liddle's syndrome (G.W. Liddle) is a form of congenital tubulopathy with an undefined inheritance pattern, driven by impaired potassium and sodium membrane transport in the distal tubules. Manifestations include early-onset arterial hypertension in infancy, alongside suppressed plasma renin, angiotensin, and aldosterone levels, hypokalemia, and metabolic alkalosis.

Little-Sloper-De Wardener syndrome (P.J. Little, J.S. Sloper, H.E. De Wardener) is a clinical syndrome caused by Developmental anomalies of the peripheral renal Arteries: paroxysmal lumbar pain, intermittent fever, and hematuria. The Clinical presentation mimics glomerulonephritis; however, the concentration and nitrogen-excreting Functions of the kidneys remain unimpaired. Diagnosis is established exclusively via renal angiography and needle biopsy, revealing poor renal perfusion at the level of small renal arteries due to intimal proliferation and interstitial fibrosis.

Lowe syndrome (C.U. Lowe, oculocerebrorenal syndrome) is an inherited tubular dysfunction combined with physical and mental developmental delay, microspherophakia, cryptorchidism, and bilateral cataracts and glaucoma. Blood tests reveal hyperchloremia and a decreased alkaline reserve, while urinalysis shows albuminuria and aminoaciduria. The inheritance pattern is X-linked recessive, with the gene mapped to Xq26.1.

McCance syndrome (R.A. McCance, cerebro-oculo-renal syndrome, cerebro-oculo-renal dystrophy) is an inherited constellation of cerebral, ocular, and renal anomalies: intentional tremor, seizure episodes, anorexia, developmental delay, recurrent vomiting and dyspepsia, bilateral corneal opacity, nystagmus, and photophobia. Laboratory findings show hyponatremia, hyperkalemia, metabolic alkalosis, and later, hyperazotemia and hypercreatininemia. The inheritance pattern is autosomal recessive. Death results from progressive renal failure.

McKittrick-Wheelock syndrome (L.S. McKittrick, F.C. Wheelock) is a complex of electrolyte disturbances in patients with a villous adenoma of the colon: tenesmus, profuse diarrhea, generalized dehydration, and a propensity for circulatory collapse. Blood work demonstrates hyponatremia, hypochloremia, and hypokalemia.

Muckle-Wells syndrome (T.J. Muckle, M. Wells) is an inherited symptom complex comprising recurrent fever, muscle weakness, and urticaria-like skin rashes. With age, it is progressively complicated by sensorineural Hearing loss leading to complete deafness, nephrotic syndrome, and occasionally testicular atrophy, loss of libido, and glaucoma. Blood tests show hypergammaglobulinemia, hypercholesterolemia, and hypercreatininemia, while urine tests reveal proteinuria and hyperaminoaciduria. It typically affects young individuals in an autosomal recessive inheritance pattern, with death ultimately resulting from uremia.

Marion's syndrome (H. Marion, congenital stenosis of the bladder neck, bladder neck obstruction) is bladder neck stenosis in children, arising on the Background of recurrent urinary tract infections (polyuria, pollakiuria, paradoxical ischuria, enuresis). Cystoscopy reveals residual urine and fibrous cystitis, whereas retrograde pyelography demonstrates hydroureter, renal pelvic dilation, and vesicoureteral-pelvic reflux.

Marie-See syndrome (J.J. Marie, G. See, acute vitamin A hypervitaminosis, acute hydrocephalus) is an acute transient hydrocephalus in infants resulting from vitamin A intoxication, characterized by refusal to feed, lethargy, restlessness, and frequently marked pallor, fontanelle bulging, and widening of the cranial sutures. Neurological signs are absent, the CEREBROSPINAL FLUID is clear, and its pressure is elevated. Renal manifestations include transient oliguria, hematuria, albuminuria, and cylindruria.

Martin-Albright syndrome (E. Martin, F. Albright) is a familial, parathyroid hormone-resistant tetany with an X-linked recessive inheritance pattern. Clinically, patients exhibit short stature, hypoplastic habitus, oligophrenia, pachydermia, premature tooth loss, shortened limbs (particularly the ulnar-side digits), and tetany. Laboratory findings show persistent hypocalcemia and hyperphosphatemia.

Marfan syndrome (A.B. Marphan, arachnodactyly, dolichostenomelia, partial gigantism, hyperchondroplasia, congenital mesodermal dystrophy) is a complex of hereditary anomalies involving: mesodermal structures—Pectus excavatum, scoliosis, Kyphosis, alterations in sella turcica dimensions, abnormally long limbs, exostoses, Spina bifida, Hallux Valgus, cleft palate, hypodontia, muscular hypoplasia, hyperelasticity of tendons and joints, congenital heart defects, aortic aneurysm, myopia, eyelash agenesis, megalocornea, blue sclerae, prominent nose, micrognathia; ectodermal structures—ectopia lentis, iridodonesis, aphakia, coloboma, anisocoria with absent light reflex, reflex asymmetries, pyramidal signs, nystagmus, hydrocephalus, tall stature, acromegalic features, menstrual irregularities, diabetes insipidus, and varying degrees of mental retardation; endodermal structures—excessively long bowel and intestinal hypoplasia. The inheritance pattern is autosomal dominant, with mutations identified in the fibrillin gene located on 15q21.1.

Mach's syndrome (R.S. Mach) is characterized by the coexistence of edema and hyperaldosteronuria in women: ingestion of more than 4 g of sodium chloride per day triggers edema and moderate hyperaldosteronuria. The functional status of The Cardiovascular system, liver, and kidneys remains unimpaired, and hypokalemia is absent.

Meyer-Betz syndrome (F. Meyer-Betz, paroxysmal paralytic idiopathic myoglobinuria) is a variant of idiopathic myoglobinuria (potentially with an autosomal recessive inheritance pattern). Clinically, it manifests as intense muscle pain and Swelling triggered by physical exertion, followed 3 to 4 hours later by the passage of dark red or brown urine. Urinalysis detects Myoglobin, albumin, erythrocytes, leukocytes, and casts. Urine color and composition typically normalize within a day. Acute renal failure develops in a subset of cases.

Menetrier's disease (P.E. Menetrier, giant hypertrophic gastritis, exudative enteropathy, nephrosis sine nephrosis, protein-losing gastroenteropathy) is an exudative gastropathy characterized by epigastric pain, nausea, vomiting, hypo- or achlorhydria, anemia, hypoproteinemia, hyponatremia, and hypokalemia.

Miller syndrome (R.W. Miller, oculocerebrorenal syndrome) is an autosomal recessively inherited association of Wilms Tumor with other anomalies, featuring a characteristic facial appearance (high forehead narrowed at the temples, posteriorly rotated ears, antimongoloid slant of the palpebral fissures, facial hypertrichosis), dwarfism, aniridia, cataracts, glaucoma, pigmented nevi, multiple hemangiomas, hypospadias, cryptorchidism, microcephaly, and mental retardation. The gene is localized to 17p13.3.

Nygaard-Brown syndrome (K.K. Nygaard, G.E. Brown, Thrombophilia essentiales) is characterized by arterial thrombosis of undetermined origin in middle-aged and elderly individuals. The clinical picture typically presents with intermittent claudication, intense pain in the calf muscles, potential laryngo- and bronchospasms, and signs of lower limb arterial thrombosis. Later stages manifest with renal artery thrombosis, presenting as lower back pain, hematuria, and renal failure. Blood tests reveal elevated globulin and fibrinogen levels, while the prothrombin count remains unchanged.

Albright-Butler-Bloomberg syndrome (F. Albright, A.M. Butler, E. Blumberg) is a complex of congenital anomalies with an X-linked dominant inheritance pattern: short stature, short neck, round face, brachydactyly, tetany, seizures, vitamin D-resistant rickets, hypocalcemia, hyperphosphatemia, elevated serum alkaline phosphatase, polyuria, aminoaciduria, glucosuria, and hyperphosphaturia. Symptoms manifest during the first year of life.

Albright-Hadorn syndrome (F. Albright, W. Hadorn) involves primary potassium metabolism disorders: periodic paralysis with paresthesia, vomiting, weakness, bone pain, pronounced osteoporosis with multiple bone fractures, hypo- or areflexia, hypokalemia, hyperchloremia, hypophosphatemia, reduced alkaline blood reserve, hyperkalituria, and hypercalciuria; oliguria and edema occur during paroxysms, and the ECG shows a prolonged QT interval.

Ohlsson's syndrome (L. Ohlsson) is an autosomal recessively inherited combination of hearing, Vision, and renal anomalies: susceptibility to recurrent otitis media, and marked myopia with typical fundus changes. Renal involvement manifests as proteinuria, intermittent hematuria, and hyperaminoaciduria.

Paget's disease (J. Paget, scleromalatia multiplex, osteodystrophia fibrosa localisata, osteodystrophia deformans, osteitis deformans) is an osteodystrophy of one or more bones with an undetermined inheritance pattern.

The disease manifests at the age of 60–70. It is characterized by a prolonged (lasting years) prodromal period with myalgia and joint pain. Subsequently, one or more tubular bones thicken and deform, their static and mechanical resistance decreases, and spontaneous fractures along with the so-called "simian posture" develop. Occasionally, the skull or spinal bones are affected, accompanied by relevant neurological symptoms such as osteosclerotic deafness, optic atrophy, extraocular muscle paresis, and radicular pain. Radiological changes are typical: periostosis with thickening and deformation of the tubular bones, detachment of the outer bone layer, and Atrophy of the spongy bone substance.

Posner's syndrome (K. Posner, prostatopathia, neurosis prostatae, neurosis urogenitale) is a complex of neurovegetative disorders in men—functional urinary disturbances (pollakiuria triggered by cold and anxiety), sexual dysfunction (weak erections and premature ejaculation), and perineal and genital dysesthesia (feeling of cold, pruritus, hypo- or hyperesthesia). No organic Changes in the prostate are detected.

Potter syndrome (E.L. Potter, syndromus renofacialis, dysplasia renofacialis) is a complex of renal and facial anomalies with an autosomal recessive inheritance pattern: hypertelorism, epicanthus, broad nasal bridge, high-set malformed ears, micrognathia, renal dys- or agenesis, and urinary tract anomalies. FOOT and vertebral anomalies, hypospadias, pulmonary hypoplasia, laryngeal, esophageal, and anal atresia may also occur. It is believed that Potter syndrome is caused by a perinatal type of polycystic kidney disease associated with a complicated pregnancy (oligohydramnios) leading to fetal tissue compression within the uterine cavity.

Pseudo-Bartter syndrome (syndromus pseudo-Bartter, F.C. Bartter) is a symptom complex arising from excessive and prolonged laxative use, manifesting as frequent bowel movements, hypokalemia, metabolic alkalosis, dehydration, and elevated plasma renin activity and aldosterone levels.

Riley-Day syndrome (C.M. Riley, R.L. Day, dysfunctio familiaris autonomica, dysautonomia familiaris) is an autosomal recessively inherited dysfunction of the Autonomic nervous system: excessive sweating, decreased tear secretion, patchy skin erythema during emotional stress or after eating, emotional lability, motor coordination disorders, hypo- or areflexia, decreased pain sensitivity, arterial hypertension, recurrent vomiting, fever, seizures, pollakiuria, and enuresis.

Rathbun syndrome (J.C. Rathbun, hypophosphatasia, phosphoethanolaminuria) is characterized by elevated alkaline phosphatase activity accompanied by clinical manifestations resembling rickets (autosomal recessive inheritance). All hallmark symptoms of rickets are observed, while blood tests reveal decreased alkaline phosphatase activity and normophosphatemia. Tubular dysfunctions include polyuria, hypercalciuria, and hyposthenuria, potentially progressing to renal failure.

Reye's syndrome (R.D.K. Reye, syndromus hepatocerebralis, white liver disease) is a disease of early childhood of infectious origin (Coxsackie virus) or inherited in an autosomal recessive manner. A few days or weeks after an Upper Respiratory Tract infection, patients develop hyperpyrexia, prolonged vomiting, a soporous state progressing to coma, tonic-clonic seizures, hyperpnea, and hepatomegaly. Blood tests reveal leukocytosis, intermittent hypoglycemia, elevated Alanine aminotransferase activity, hyperketonemia, acidosis, and hypernatremia.

Reichmann's syndrome (M. Reichmann, gastrosuccorhoea) is hypochloremic azotemia caused by primary or secondary gastric secretion disorders (gastric hypersecretion accompanied by vomiting of large amounts of clear fluid, often presenting with cramping stomach pain, especially in the evening and at night).

Rotter-Erb syndrome (W. Rotter, W. Erb, osteochondrodesmodysplasia) is a Connective Tissue dysplasia with an autosomal recessive inheritance pattern: short stature, joint laxity with multiple dislocations, flexion contractures, dysplasia of the hand bones, skull, spine, and long leg bones, muscular disorders, multiple pterygia, and hypoplasia of Internal Organs, including the kidneys.

Rowley-Rosenberg syndrome (P.T. Rowley, L.E. Rosenberg) is an autosomal recessively inherited symptom complex of impaired tubular amino acid reabsorption. The disease manifests before the age of 2, presenting with delayed physical development, muscle hypotrophy, decreased lung volumes, recurrent pneumonia complicated by Cor Pulmonale, polyuria, hyposthenuria, and aminoaciduria, alongside normal blood amino acid levels and elevated unesterified fatty acid levels.

Salvioli's syndrome (G. Salvioli, osteopathia familiaris neuroendocrinica) is an autosomal dominantly inherited hypophosphatemic bone dystrophy accompanied by complex central nervous system and endocrine disorders: generalized osteodystrophy with bone pain (ostalgia), spontaneous fractures, extrapyramidal disorders, gynecomastia, and Hypergenitalism. Blood tests reveal hypophosphatemia, with normal calcium levels.

Saldino-Noonan syndrome (R.M. Sandino, Ch.D. Noonan) is a combination of autosomal recessively inherited anomalies: polydactyly, metaphyseal dysplasia of long tubular bones, significantly shortened arms and legs resembling animal paws, polycystic kidney disease, and urogenital tract atresia.

Semb-Gjone-Rosenthal syndrome (L.S. Semb, E. Gjone, W.S. Rosenthal, syndromus WDHA [WD - water diarrhea, H - hypokalemia, A - achlorhydria]) is a symptom complex occurring in patients with a pancreatic tumor, presenting with intermittent abdominal pain, frequent watery diarrhea, achlorhydria, muscle weakness, and hypokalemia.

Senior-Løken syndrome (B. Senior, A.S. Loken) is an inherited combination of renal and ocular anomalies. Renal involvement manifests as tubular dysfunction (impaired concentration ability, moderate proteinuria); ocular involvement features distinctive pigmentation of the lower retina (so-called extinguished electroretinogram) accompanied by hemianopsia. Cerebellar ataxia and various skeletal anomalies are less frequently observed. The inheritance pattern is autosomal recessive.

Siegal-Cattan-Mamou syndrome (Sh. Siegal, R.R. Cattan, H. Mamou, morbus periodicus, febris mediterranea, morbus periodicus familiaris) is an autosomal recessively inherited disease characterized by a triad of symptoms: recurrent paroxysms of fever, abdominal pain, and arthralgia. During a flare-up, patients may also exhibit hypertension, recurrent polyserositis, skin rashes, albuminuria, and cylindruria. The prognosis is favorable, though amyloidosis occasionally develops.

Scriver-Goldbloom-Roy syndrome (Ch.R. Scriver, P.B. Goldbloom, C.Ch. Roy) involves congenital electrolyte and amino acid metabolism disorders (with an undetermined inheritance pattern)—signs of rickets, normocalcemia, hypophosphatemia, glycinuria, prolinuria, and glucosuria.

Slocumb's syndrome (C.H. Slocumb, pseudoreumatismus steroides, steroid pseudoreumatismus) is a symptom complex that develops following the withdrawal of prolonged glucocorticoid therapy: fatigue, emotional lability, anorexia, depression, specific pseudo-myalgia, pain during joint movement, and occasionally pronounced arthralgia, low-grade fever, skin rashes, polyuria, and hypertension. Blood tests reveal leukocytosis or leukopenia, accelerated ESR, hypoalbuminemia, and hypercalcemia.

Sohar's syndrome (E. Sohar) is a complex of anomalies with an autosomal dominant inheritance pattern: a "marfanoid" appearance, Inner ear developmental anomalies resulting in deafness by the age of 9–10, myopia with spheroohakia, hyperazotemia, hypercreatininemia, signs of glomerular-tubular dysfunction (hyposthenuria), and progressive renal failure.

Sperling's syndrome (O. Sperling) is an autosomal recessively inherited xanthine oxidase deficiency characterized by osteoporosis, hypouricemia, hypercalciuria, and hyperuricosuria.

Thorn's syndrome (G.W. Thom, salt-losing nephritis, pseudo-Addisonismus) is a renal tubular sodium reabsorption defect of various origins (e.g., associated with pyelonephritis) leading to secondary adrenocortical insufficiency (see Addison's disease). Blood tests reveal hyponatremia; the symptoms are significantly alleviated or disappear altogether following sodium chloride administration.

Winter syndrome (J.S.D. Winter, syndromus auro-uro-genitalis) is an autosomal recessive complex of anomalies involving the external (hypoplasia or dysplasia of the auricles) and internal (deafness) ear, micrognathia, aplasia or atresia of the Vagina, hypoplasia of the Uterus and ovaries, amenorrhea, and unilateral or bilateral aplasia of the kidneys and ureters. It exhibits gynetropism.

Whipple's disease (G.H. Whipple, steatorroea arthropericarditica, lipodystrophia intestinalis) is an intestinal lipomatosis characterized by impaired absorption and synthesis of neutral fat, presenting with steatorrhea, meteorism, cachexia, hypovitaminosis, polyserositis, endocarditis, polyarthritis, and vasculitis. Blood tests reveal hypochromic microcytic anemia, elevated ESR, hypoproteinemia, hypocalcemia, and hypocholesterolemia.

Wilson-Konovalov disease (S.A.K. Wilson, degeneratio hepatolenticularis, degeneratio hepatocerebralis, pseudosclerosis, degeneratio neurohepatica) is a genetically inherited autosomal recessive defect of protein and copper metabolism. It is fundamentally caused by a reduced level of ceruloplasmin, a copper-containing protein with oxidase activity. As a result of this impairment, copper binds unstablely to blood albumins and Amino Acids, readily dissociates from them, and deposits in tissues—primarily in the Basal Ganglia of the brain (the lentiform Nucleus), liver, and cornea—and is excreted in significant amounts in the urine (hypercupruria).

The clinical picture is dominated by extrapyramidal disorders, including intention tremor, scanning speech, frozen facial expression, limb contractures, torsion dystonia, psychiatric disturbances, intellectual decline, and affective lability. Hepatomegaly and carbohydrate metabolism disorders with signs of hyperinsulinism are also observed. A pathognomonic sign is the Kayser-Fleischer ring, which is the deposition of a copper-containing greenish-brown pigment at the periphery of the cornea. Renal involvement manifests as tubular acidosis, hyperaminoaciduria, and hypercupruria (exceeding 350 mg/day).

Ulrich-Feichtiger syndrome (O. Ulrich, A. Feichtiger) is a complex of anomalies with an autosomal recessive or X-linked recessive inheritance pattern, characterized by a mask-like facies, narrow palpebral fissures, a prominent forehead, a large Mouth, "cat-like" ears, cleft palate, microgenia, microphthalmia, corneal opacity, deafness, polydactyly, hypospadias, and frequently congenital heart defects and polycystic kidney disease.

Fanconi syndrome (G. Fanconi, myelosis funicularis aplastica infantium, panmyelopatia constitutionalis infantium) is a combination of infantile myelopathy (hyperchromic macrocytic anemia, leukopenia, thrombocytopenia, bone marrow hypoplasia and aplasia) with multiple anomalies, such as short stature, infantilism, hypogenitalism, microcephaly, hyperreflexia, microphthalmia, strabismus, renal developmental defects (dystopia, horseshoe kidney) with tubular dysfunctions and a generalized defect in renal uric acid transport, alongside pigmentation disorders (gray-brown hyperpigmentation patches in the inguinal regions, vitiligo-like lesions, and a slate-gray color of the Lips). Blood analysis reveals hypouricemia. The inheritance pattern is autosomal recessive.

Fanconi-Albertini-Zellweger syndrome (G. Fanconi, A. von Albertini, H.U. Zellweger) represents osteopathic-acidotic metabolic disorders combined with pseudorickets and a characteristic phenotype: normal birth weight, proportionate dwarfism, congenital heart defects, and a characteristic facial appearance featuring a prominent forehead, narrow palpebral fissures, epicanthus, moderate hypertelorism, a depressed and broadened nasal tip, narrow nostrils, a wide mouth with a protruding lower jaw, macroglossia, micro- and hypodontia, a short neck, auricular Cartilage dysplasia, and ozaena. Laboratory findings include hypoproteinemia, hypocalcemia, and a reduced alkaline reserve. Urinalysis shows albuminuria, pyuria, cylindruria, and intermittent aminoaciduria. Radiography reveals rickets-like bone changes, pseudofractures, osteoporosis, and calcification of the falx cerebri.

Fanconi-Schlesinger syndrome (G. Fanconi, B. Schlesinger) is chronic idiopathic hypercalcemia accompanied by osteosclerosis, predominantly of the cranial base bones: short stature, cognitive impairment, moderate hyperphosphatemia (not always present), and hypercholesterolemia. Congenital heart defects, premature craniosynostosis, and strabismus are frequently observed. Renal involvement manifests as moderate proteinuria, hypercreatininemia, hypercalciuria, hyperphosphatemia, and a decrease in glomerular filtration rate. The inheritance pattern is autosomal recessive.

Fahr's disease (T. Fahr) is a parathyroid gland dysfunction with an autosomal recessive inheritance pattern, characterized by calcinosis of the cerebral vessel walls, slowly progressive dementia, varying degrees of extrapyramidal disorders, limb hyperkinesia, and occasionally epileptiform seizures. Blood tests show hypercalcemia. Skull radiography reveals marked intracerebral calcinosis ("brain stones").

Folling syndrome (I.A. Folling, phenylketonuria, oligofrenia phenylpururica, imbecillitas phenylpururica) is an inherited amino acid metabolism disorder associated with oligophrenia: idiocy or imbecility, short stature, infantilism, hypopigmentation (fair Hair, light blue eyes), hyperhidrosis, various motor and tone disorders, diminished Reflexes, and occasionally cleft lip, cleft palate, brachycephaly, and spina bifida. Laboratory findings include hypophosphatemia, a reduced alkaline reserve, and fasting hypoglycemia. The inheritance pattern is autosomal recessive.

Fechtner syndrome (R. Fechtner) is a combination of Alport syndrome and May-Hegglin anomaly, presenting as macrothrombocytopenia with characteristic inclusions (Dohle bodies) in the platelets.

Fiessinger's syndrome (A. Fiesshi) comprises symptoms of left kidney compression by an enlarged spleen: a sensation of pressure in the left half of the abdomen and the left hypochondrium, accompanied by palpable splenomegaly and renal displacement in the same area.

FOAR syndrome [F (facies), O (oculus), A (auditus), R (ren)] is a complex of anomalies inherited in an autosomal recessive manner, characterized by telecanthus and hypertelorism, deafness, myopia, and proteinuria.

Forssell's syndrome (J. Forsell, polycythemia nephrogenes) is nephrogenous polycythemia caused by the overproduction of erythropoietins by the kidneys. The early stage of the disease presents with hematuria and a plethoric face. Blood tests show polyerythrocythemia and elevated Hemoglobin levels, while leukocyte and platelet counts remain normal. Renal examination reveals cysts, hydronephrosis, hypernephroma, fibromyxoma, and other tumors. Symptoms resolve following nephrectomy.

Franklin's disease (E.C. Franklin, heavy chain disease) is an autosomal dominant globulin synthesis disorder. Clinically, it manifests with generalized lymphadenopathy, fever, hepatosplenomegaly, ascites, and edema of the palate, epiglottis, and uvula. Laboratory findings include anemia, eosinophilia, leukopenia with relative lymphocytosis, plasmacytosis, hyper-beta and hyper-gamma-globulinemia, and the presence of Bence-Jones protein in the urine.

Fraser syndrome (G.R. Fraser) is an autosomal recessive complex of anomalies characterized by cryptophthalmos, hypoplasia or absence of the lacrimal ducts, developmental Anomalies of the middle and External ear, high arched palate, cleft lip, hypertelorism, Laryngeal stenosis, syndactyly, bicornuate uterus, fallopian tube anomalies, and renal hypoplasia.

Fraley syndrome (E.E. Fraley, upper calyx syndrome) is a congenital anomaly of the renal vasculature where the anterior and posterior Branches of the upper renal artery cross and compress the upper renal pelvis. Clinically, it presents with persistent pain in the lumbar region—occasionally resembling renal colic caused by secondary lithiasis—along with mild arterial hypertension, micro- or macrohematuria, and leukocyturia. The diagnosis is confirmed by angiography.

Frohlich's syndrome (A. Frohlich, adiposogenital dystrophy): characterized by obesity with predominant fat deposition on the thighs, buttocks, abdomen, and lower legs, hypogenitalism, short stature, cerebral symptoms (headache, epileptiform seizures, heteronymous hemianopia), and frequently diabetes insipidus, hypothermia, and increased carbohydrate tolerance. Urinary sediment changes are non-specific (proteinuria, microhematuria, cylindruria).

Heyd's syndrome (Ch.H. Heyd, syndromus hepatorenalis, hepatonephritis serosa acuta) is non-icteric hepatosis accompanied by signs of impaired renal function: oliguria, anuria, isosthenuria, albuminuria, and microhematuria. Blood tests reveal acidosis, hypercreatininemia, and hyperazotemia.

Hamman-Rich syndrome (L. Hamman, A. Rich, pneumofibrosis interstitialis diffusa progressiva) is a diffuse progressive interstitial pulmonary fibrosis. An inherited autosomal dominant predisposition to this pathology cannot be excluded.

Two phases are distinguished in its development. The first phase is compensated pulmonary insufficiency, characterized by a slow onset with a hacking dry cough, blood-tinged sputum, chest pain, and occasionally a fever lasting 2-3 weeks. The second phase involves decompensated pulmonary insufficiency, progressive dyspnea, cyanosis, and polyglobulia. Radiologic changes (progressive reticular shadowing with the development of micronodular opacities) resemble Pulmonary Tuberculosis. Proteinuria is present in the urine.

Hand-Schuller-Christian disease (A. Hand, A. Schuller, H.A. Christian, cholesterinlipoidosis, lipoidgranulomatosis, lipoidhystiocytosis, hystiocytosis X chronica disseminata) is a granulomatous Cholesterol thesaurismosis (storage disease) with an autosomal recessive or X-linked recessive inheritance pattern.

It is characterized by skeletal changes (lucent foci in the skull bones, Femur, and vertebrae), exophthalmos, pituitary symptoms (diabetes insipidus, obesity), hepato- and splenomegaly, jaundice, skin lesions (xanthomas, exanthema, purpura), gingival bleeding, tooth loss, infantilism, diminished partial renal functions, and hypercholesterolemia in the blood.

The classical triad consists of cranial bone defects, exophthalmos, and diabetes insipidus.

Herrman-Aguilar-Sacks syndrome (Ch.J. Herrman, M.J. Aguilar, O.W. Sacks) is an autosomal dominant disorder characterized by photomyoclonus, deafness, diabetes mellitus with peripheral neuropathy, and diabetic nephropathy or pyelonephritis. Laboratory findings include hyperlipoproteinemia and hypermucoproteinemia in the blood, and hyperalanine, hyperleucine, and hypervalinuria in the urine.

Von Hippel-Lindau syndrome (E. von Hippel, A. Lindau, angiomatosis retinae cystica, angiomatosis retinocerebellosa) is an autosomal dominant disorder characterized by multifocal angioblastomas accompanied by a triad of anomalies: vascular tumors of The Nervous System, retinal angiomatosis, and developmental disorders or benign tumors of internal organs (renal, pancreatic, and hepatic cystomas). Clinical symptoms depend on the localization of the angiomas. Unlike Lindau syndrome, testicular tumors are not observed.

Hoopf syndrome (C. Hoopf, hypolipidemia familiaris) is an inherited metabolic disorder characterized by hypolipidemia without steatorrhea, accompanied by moderate growth retardation, dry ichthyotic skin with erythematosquamous rashes, total leukonychia, gynecotropism, and mental retardation. Laboratory findings include hypolipidemia and hyperphosphatemia in the blood, alongside aminoaciduria, indoluria, and increased tubular reabsorption of phosphorus in the urine. The inheritance pattern is autosomal recessive.

Schwartz-Bartter syndrome (W.B. Schwartz, F.C. Bartter) is characterized by edema, hyponatremia, hypokalemia, hypernatriuria, increased urinary excretion of 17-ketosteroids, and decreased aldosterone levels in the presence of bronchogenic carcinoma.

Schwachman syndrome (H. Schwachman) is a symptom complex in patients with congenital exocrine pancreatic insufficiency (autosomal recessive inheritance), presenting with recurrent diarrhea, general developmental delay, fasting hypoglycemia, metabolic acidosis, and impaired glucose tolerance. Morphological examination reveals pancreatic lipomatosis.

Sheehan-Simmonds syndrome (D. Sheehan, A. Simmonds, cachexia hypophisaria, dystrophia marantogenitalis) is a symptom complex characteristic of anterior pituitary insufficiency, manifested by atrophy of internal and external genitalia, amenorrhea, hypogalactia, frigidity, skin thinning, decreased basal metabolic rate, spontaneous hypoglycemia, and asthenia. Blood tests reveal hypercholesterolemia, hypochloremia, and hyponatremia.

Schmidt syndrome (M.B. Schmidt, syndromys thyreosuprarenalis, syndromys triglandularis, insufficiencia pancreatothyreosuprarenalis) is an autosomal recessive disorder caused by the combination of thyroid and adrenal insufficiency with diabetes mellitus. Clinical features include asthenia, adynamia, dry and hyperpigmented skin, hypotension, anorexia, nausea, vomiting, diarrhea, decreased basal metabolic rate, cold intolerance, polydipsia, and polyuria. Laboratory findings show hyponatremia, hyperglycemia, and hyperkalemia in the blood, as well as glucosuria in the urine.

Jacobsen-Brodwall syndrome (C.D. Jacobsen, E.K. Brodwall) is an anomaly complex, possibly with an autosomal recessive inheritance pattern, comprising an erythropoiesis defect with anisocytosis, hypochromic anemia, otitis, iridocyclitis, uveitis, genu valgum, and early dental eruption. Renal findings include signs of dysplasia (ingrowth of smooth muscle fibers into the renal parenchyma, aplasia of the Loop of Henle) accompanied by progressive decline in renal concentrating ability and the development of renal failure.