Hereditary diseases of the lungs in children

Genetically determined lung diseases are detected in 4-5% of children with recurrent and chronic diseases of the respiratory system. It is accepted to distinguish monogeneously 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 signs of the main forms of monogeneously inherited lung diseases

Nosological form	Main clinical manifestations	Roentgen-brain and functional signs	Special indicators
Primary ciliary dyskinesia	Total defeat of the respiratory tract with an early manifestation of symptoms. Often the reverse location of internal organs	Bronchial deformation, diffuse lesion, persistent purulent endobronchitis	Immobilization of cilia, changes in their structure
Idiopathic diffuse pulmonary fibrosis	Persistent dyspnoea, cyanosis, dry cough. Loss of body weight. "Drumsticks". Cryptic rales	Diffuse fibrotic changes. Restrictive type of respiratory disorders. Hypoxemia, hypercapnia
Hemosiderosis of the lungs	Cough, shortness of breath, hemoptysis, anemia in the crisis period. Spleen enlargement, icterism	Multiple goblet shadows during the crises	Detection of siderophages in sputum
Goodpasture Syndrome	Cough, shortness of breath, hemoptysis, anemia in the crisis period. Spleen enlargement, icterism, hematuria	Also	Also
Family spontaneous pneumothorax	Suddenly appearing pains in the side, absence of respiratory noises, displacement of cardiac dullness in the opposite direction	The presence of air in the pleural cavity, the collapse of the lung, the displacement of the mediastinum in the opposite direction
Alveolar microlithiasis	Shortness of breath, cyanosis, dry cough. Clinical manifestations may be absent	Fine diffuse shadows of rocky density
Primary pulmonary hypertension	Shortness of breath, mainly with physical activity. Cyanosis. Pain in the heart. Tachycardia, accent of the 2nd tone over the pulmonary artery	Hypertrophy of the right heart. Weakening of the pulmonary pattern on the periphery, expansion of the roots, their enhanced pulsation	Increased pressure in the pulmonary artery

• Primary ciliary dyskinesia underlies the formation of many chronic diseases of the bronchopulmonary system (bronchiectasis, etc.).
• The syndrome of Kartagener is a combination of the reverse arrangement of the internal organs (situs viscerum inversus) and the ciliary syndrome, which leads to the formation of bronchiectasises and purulent sinusitis.
• The diagnosis of primary ciliary dyskinesia is based on phase-contrast microscopy of a biopsy specimen of the nasal mucosa or bronchi immediately after their preparation (assessment of intensity and quality of ciliary movement) and / or electron microscopic examination of the biopsy specimen (establishing the character 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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