Alpha-1 antitrypsin deficiency in children in the Sakha Republic (Yakutia)

One of the causes of developingchronic nonspecific lung diseases with emphysema is alpha 1-antitrypsin deficiency, caused by a decrease in the corresponding protein in the serum due to mutations in the SERPINA1 gene [1, 2]. According to the World Health Organization, alpha-1-antitrypsin deficiency (A1AT) is a disease caused by a genetically determined deficiency of this protein. According to the European Pulmonary Foundation, the prevalence of the A1AT deficiency in Europe averages to 1 per 1,800-2,500 newborns, which is about 125 thousand people [3, 4], and in the US, there are about 60-100 thousand patients with this disease [5]. The prevalence of the A1AT deficiency in the Russian Federation is unknown. Clinical manifestations of the A1AT deficiency in adults are sufficiently described [6]. Literary data and clinical cases of the A1AT deficiency in children are few, which served as the basis for the description of the clinical case. The lung tissue damage in a patient with the A1AT deficiency started at the age of 6 years with signs of recurrent bronchial obstruction with the development of chronic deforming bronchitis. Increased awareness of practicioners of various fields will improve the establishment of diagnosis and early detection of this pathology.

children, alpha-1 antitrypsin deficiency, serpina, bronchi, lungs, genetics, CNSLD, chronic bronchitis, Yakutia

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