Alpha-1 Antitrypsin Deficiency in Children. A Modern View of the Problem
https://doi.org/10.52420/umj.23.6.132
EDN: XDBAHW
Abstract
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.
About the Authors
I. V. Vakhlova
Ural State Medical University
Russian Federation
Competing Interests:
Russian Federation
Irina V. Vakhlova — Doctor of Sciences (Medicine), Professor, Head of the Department of Hospital Pediatrics, Director, Institute of Pediatrics and Reproductive Medicine
Ekaterinburg
Competing Interests:
Irina V. Vakhlova is the Deputy Editor-in-Chief of Ural Medical Journal, and she did not participate in reviewing the material or making a decision about its publication. The other authors declare the absence of obvious or potential conflicts of interest.
G. V. Fedotova
Ural State Medical University
Russian Federation
Russian Federation
Galina V. Fedotova — Candidate of Sciences (Medicine), Associate Professor of the Department of Hospital Pediatrics, Institute of Pediatrics and Reproductive Medicine
Ekaterinburg
M. S. Timofeevа
Ural State Medical University
Russian Federation
Russian Federation
Maria S. Timofeevа — Specialist’s Degree Student of the Institute of Pediatrics and Reproductive Medicine
Ekaterinburg
E. S. Timofeev
Ural State Medical University
Russian Federation
Russian Federation
Evgeniy S. Timofeev — Specialist’s Degree Student of the Institute of Pediatrics and Reproductive Medicine
Ekaterinburg
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Vakhlova IV, Fedotova GV, Timofeevа MS, Timofeev ES. Alpha-1 Antitrypsin Deficiency in Children. A Modern View of the Problem. Ural Medical Journal. 2024;23(6):132–150. (In Russ.) https://doi.org/10.52420/umj.23.6.132. EDN: XDBAHW
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