Alpha-1 Antitrypsin Deficiency in Children. A Modern View of the Problem

Introduction . Alpha-1 antitrypsin (AAT) deficiency is a deficiency of a protease inhibitor that leads to lung destruction and liver damage. The clinical manifestations of AAT are highly variable and depend on phenotype and environmental factors. The only available treatment for AAT is replacement therapy. The aim of the study is to systematize current data on the pathogenesis, clinical manifestations and modern methods of treatment of AAT to determine the selectivity of pediatricians according to these manifestations. Materials and methods . The literature search was carried out in the eLibrary.ru database, PubMed, Russian and foreign specialized medical journals. Results and discussion. AAT deficiency is caused by mutations in the SERPINA1 gene. In Europe, the prevalence of AAT deficiency varies from 1 : 1 800 to 1 : 2 500 newborns. Mutations in the gene lead to incorrect assembly of the AAT molecule (Z-protein), with their subsequent accumulation and abnormal polymerization in hepatocytes, which leads to hepatitis. As a result of insufficient secretion of AAT into the systemic circulation, antiprotease protection is weakened and inflammatory processes in the lungs intensify. Currently, serum AAT-increasing therapy, which uses protein purified from healthy human plasma, remains the only specific pharmacological intervention available for the treatment of AAT. Conclusion. AAT deficiency is an autosomal recessive disease that requires knowledge of the characteristics of clinical manifestations. There is great potential in using gene therapy to treat AAT-related diseases.