Pediatric Medical Genetics - S.I. Smiian 2003

Congenital malformations and inherited diseases of the bronchopulmonary system in children

The variety of bronchopulmonary disorders can be tentatively divided into the following groups (Scheme 1).

Bronchopulmonary diseases in children

Scheme 1. Classification of bronchopulmonary diseases in children (by I.S. Smiian).

Significance of Developmental Anomalies and hereditary Pathology of the bronchopulmonary system: 1. The overall prevalence of recurrent and chronic diseases of this system in children ranges from 0.85% to 1.45%, with developmental defects and hereditary conditions accounting for a substantial proportion (from 4.6% (V.D. Surkov et al.) to 20% (N.S. Tyurina)). Congenital pulmonary malformations are diagnosed in 1–3% of deceased newborns and in 1/5 to 1/3 of patients with chronic bronchopulmonary pathology (Shabalov, 1997). Furthermore, with the advancement of diagnostic Methods, the incidence of congenital and hereditary disorders tends to increase. 2. This group of diseases generally carries an unfavorable prognosis, as it leads to disability, shortened life expectancy, and frequently to fatal outcomes in early childhood. 3. The large number of pathological forms, insufficient research, and limited individual clinical experience of pediatricians (due to the rarity of specific conditions) complicate Diagnosis and Treatment. 4. Effective preventive measures are lacking.

The most common Congenital Malformations of the bronchopulmonary system can be outlined as follows (Table 2).

Class="center">Table 2. Malformations of the bronchopulmonary system

In our opinion, the classification proposed by S.L. Libov and Yu.N. Levashov is less precise compared to the one presented here. It is structured as follows:

I. Malformations associated with underdevelopment of the organ or its structures (agenesis, aplasia, pulmonary hypoplasia, polycystic lung disease, tracheobronchomegaly, Williams-Campbell syndrome, congenital lobar emphysema);

II. Malformations associated with an excess of dysembryogenetic formations (accessory lung, pulmonary cyst with anomalous Blood supply (pulmonary sequestration), neoplasms).

III. Unusual anatomical positioning (situs inversus — Kartagener syndrome, mirror lung, tracheal bronchus, etc.).

IV. Local structural abnormalities of the trachea and bronchi (stenosis, diverticula, tracheoesophageal fistulas).

V. Anomalies of the pulmonary Blood and Lymphatic vessels (stenosis of the pulmonary artery and its branches, VARICOSE Veins OF the lungs, arteriovenous fistulas, lymphangiopathies, etc.).