Hereditary lung diseases in children

Genetically determined lung diseases are detected in 4-5% of children with recurrent and chronic respiratory diseases. It is customary to distinguish between monogenically inherited lung diseases and lung lesions that accompany other types of hereditary pathology (cystic fibrosis, primary immunodeficiencies, hereditary connective tissue diseases, etc.).

Clinical and diagnostic features of the main forms of monogenic inherited lung diseases

Nosological form	Main clinical manifestations	Roentgenobronchological and functional signs	Special indicators
Primary ciliary dyskinesia	Total defeat of the respiratory tract with early manifestation of symptoms. Often reversed arrangement of internal organs	Deformation of the bronchi, diffuse lesions, persistent purulent endobronchitis	Immobility of cilia, changes in their structure
Idiopathic diffuse pulmonary fibrosis	Persistent dyspnea, cyanosis, dry cough. Weight loss. Clubbing. Crepitant wheezing.	Diffuse fibrotic changes. Restrictive type of respiratory disorders. Hypoxemia, hypercapnia
Pulmonary hemosiderosis	Cough, dyspnea, hemoptysis, anemia during crises. Enlarged spleen, icterus	Multiple goblet shadows during crises	Detection of siderophages in sputum
Goodpasture's syndrome	Cough, dyspnea, hemoptysis, anemia during crises. Enlarged spleen, icterus, hematuria	Same	Same
Familial spontaneous pneumothorax	Sudden pain in the side, absence of respiratory sounds, shift of cardiac dullness to the opposite side	Presence of air in the pleural cavity, collapse of the lung, displacement of the mediastinum to the opposite side
Alveolar microlithiasis	Dyspnea, cyanosis, dry cough. Clinical manifestations may be absent.	Fine diffuse shadows of rocky density
Primary pulmonary hypertension	Dyspnea, mainly during physical exertion. Cyanosis. Pain in the heart area. Tachycardia, accentuation of the second tone over the pulmonary artery.	Hypertrophy of the right heart. Weakening of the pulmonary pattern on the periphery, expansion of the roots, their increased pulsation	Increased pulmonary artery pressure

• Primary ciliary dyskinesia underlies the development of many chronic diseases of the bronchopulmonary system (bronchiectasis, etc.).
• Kartagener syndrome is a combination of situs viscerum inversus and ciliary immobility syndrome, which leads to the formation of bronchiectasis and purulent sinusitis.
• The diagnosis of primary ciliary dyskinesia is based on phase-contrast microscopy of a biopsy of the nasal or bronchial mucosa immediately after its collection (assessment of the intensity and quality of ciliary movement) and/or electron microscopic examination of the biopsy (establishment of the nature of the defect in the structure of the cilia).
• In 50-60% of cases, primary ciliary dyskinesia is not accompanied by a reverse arrangement of internal organs.

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