Nephrology for General Practitioners - O.I. Bakaliuk 2003

Pediatric Nephrology
Specifics of the clinical examination of children with suspected renal disease

Obtaining a thorough medical history requires establishing a strong rapport with both the child and their parents.

Accordingly, symptoms should be documented from the Perspectives of both the mother and the child, noting their frequency, severity, timing, pattern, and periodicity—such as dysuria, abdominal and flank pain, headaches, excessive thirst, fatigue and somnolence, weight gain (indicative of occult edema), changes in urine color, and others.

The child's personal history should detail developmental milestones, past illnesses, and any foci of chronic infection. Particular attention must be paid to allergic manifestations (food or drug-related), pollinosis, and a history of Viral Hepatitis. Furthermore, physicians should investigate potential triggers occurring within the 2 to 3 weeks prior to the onset of renal symptoms, including acute respiratory infections, tonsillitis, scarlet fever, hypothermia, medication use, and recent vaccinations.

It is also essential to gather information regarding the mother's Pregnancy and delivery, infections contracted during pregnancy, medications used (Hormones, Antibiotics, sulfonamides, urinary antiseptics, NSAIDs), her own childhood and adolescent development (including the prepubertal and pubertal periods), exposure to occupational or environmental hazards, family health history, and hereditary disorders.

We should also emphasize the necessity of identifying patterns typical of Hereditary diseases, which is impossible without clinical proficiency in genetic Data analysis.

Among these Methods, genealogical analysis is paramount. It involves constructing pedigrees across both vertical and horizontal lines, the data from which ultimately help determine the frequency, developmental characteristics, and transmission pathways of renal pathologies.

Taking a comprehensive family history involves identifying any history of Kidney disease and its clinical course, allergic conditions, arterial Hypertension, and Metabolic Disorders (such as urolithiasis, Gout, Diabetes Mellitus, and obesity). The primary objective here is to establish whether the disease or trait has a hereditary basis.

Disorders with an Autosomal dominant inheritance pattern (such as Polycystic Kidney Disease, renal glucosuria, and hypoplastic dysplasias) share several characteristic features: the disease is traceable across vertical generations; one of the parents is affected; boys and girls are affected with equal frequency; The ratio of affected to unaffected offspring from an affected parent is 1:1; and family members who do not carry the mutant Gene have unaffected descendants.

Conditions with an Autosomal Recessive Inheritance pattern (including congenital Nephrotic Syndrome, primary hyperoxaluria, cystinuria, Fanconi Syndrome, and Hartnup disease) are characterized by: recurrent cases appearing horizontally within a generation; manifestation of the mutant gene in the homozygous state; parents who are typically phenotypically healthy yet heterozygous carriers of the recessive gene; equal morbidity in boys and girls; an affected-to-unaffected offspring ratio of 1:3 among heterozygous carriers; and half of the unaffected children being heterozygous carriers. Consanguineous marriages are also notably frequent in this group of disorders.

In the category of sex-linked disorders, mutant genes are localized on the X and Y Chromosomes.

X-linked dominant inheritance (such as hereditary nephritis and nephrogenic diabetes insipidus) features an affected parent; clinical manifestations in both boys and girls; transmission of the condition by affected mothers to half of their children; and male offspring of affected fathers who remain completely unaffected, with only daughters inheriting the condition.

X-linked recessive inheritance is characterized by the onset of disease in boys, while heterozygous carrier mothers transmit the condition to half of their sons and daughters; sons of affected fathers are healthy; and the condition is frequently identified in the sons of the maternal grandfather's sisters or maternal first cousins.

M.V. Erman (1996) identified 11 of the most informative criteria for establishing risk groups for pediatric renal pathology: the "heredity" category—a family history of renal disease; the "pregnancy and history of labor" category—maternal or paternal occupational hazards prior to the child's birth, gestosis, threatened Miscarriage, infectious diseases, prenatal medication use, and a birth weight-to-length index below 60; and the "clinical signs" category—delayed physical development, unexplained fever, abdominal pain, voiding dysfunction, and abnormal urinalysis findings.

He also formulated core guidelines for categorizing children into nephropathy risk groups:

- the presence of at least one positive response within each of the three categories;

- negative responses or missing data in the "heredity" category combined with multiple positive responses in the other categories;

- negative responses or missing data in both the "heredity" and "pregnancy and history of labor" categories, accompanied by multiple positive responses in the "clinical signs" category and the presence of urinary abnormalities.

Physical examination of the child focuses on general condition, well-being, and age-appropriate somatic status. For instance, altered consciousness may present at the acute onset of Glomerulonephritis accompanied by signs of hypertensive encephalopathy, whereas growth and weight deficits may suggest an underlying genetic condition, and excessive weight may point to endocrine pathology. The presence of dysmorphic features (such as abnormal Skull shape, a widened nasal bridge, dysplastic dental development, ocular anomalies, clinodactyly of the fifth toe, brachydactyly, Syndactyly, or hypertelorism) plays a crucial role in identifying a congenital Etiology of renal involvement.

Inspection of the Skin provides valuable diagnostic clues—evaluating its coloration, signs of hemorrhagic diathesis, dryness, excoriation marks, pastiness, edema, and depigmented patches. Examination of the external genitalia may reveal inflammatory processes such as vulvitis or balanitis.

Palpation of the abdomen (performed in both upright and supine positions) allows for the detection of Nephroptosis, free fluid in the peritoneal cavity, abdominal masses, hepatosplenomegaly, and the condition of the bowel.

Auscultation informs the physician about the Respiratory system (detecting hydrothorax or pulmonary rales) and The Cardiovascular system (noting tachycardia, muffled first Heart sound, an apical systolic murmur, a third heart sound, or the presence of hypertension or hypotension).

It is also mandatory to measure Blood pressure in both the upper and lower extremities.