Введение

urmj

Уральский медицинский журнал

Ural Medical Journal

2949-4389

Ural State Medical University

10.52420/umj.23.6.132

XDBAHW

urmj-1647

Research Article

Литературные обзоры | Literature reviews

Literature reviews

Дефицит альфа-1-антитрипсина у детей. Современный взгляд на проблему

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

https://orcid.org/0000-0002-5274-4699

Вахлова

И. В.

Vakhlova

I. V.

Ирина Вениаминовна Вахлова — доктор медицинских наук, профессор, заведующий кафедрой госпитальной педиатрии, директор, институт педиатрии и репродуктивной медицины

Екатеринбург

Irina V. Vakhlova — Doctor of Sciences (Medicine), Professor, Head of the Department of Hospital Pediatrics, Director, Institute of Pediatrics and Reproductive Medicine

Ekaterinburg

pediatria@usma.ru

https://orcid.org/0000-0001-7886-5491

Федотова

Г. В.

Fedotova

G. V.

Галина Викторовна Федотова — кандидат медицинских наук, доцент кафедры госпитальной педиатрии, институт педиатрии и репродуктивной медицины

Екатеринбург

Galina V. Fedotova — Candidate of Sciences (Medicine), Associate Professor of the Department of Hospital Pediatrics, Institute of Pediatrics and Reproductive Medicine

Ekaterinburg

tichcovagala@yandex.ru

https://orcid.org/0000-0001-7760-1427

Тимофеева

М. С.

Timofeevа

M. S.

Мария Сергеевна Тимофеева — студент института педиатрии и репродуктивной медицины

Екатеринбург

Maria S. Timofeevа — Specialist’s Degree Student of the Institute of Pediatrics and Reproductive Medicine

Ekaterinburg

maria_tih13.02@icloud.com

https://orcid.org/0009-0002-9193-2884

Тимофеев

Е. С.

Timofeev

E. S.

Евгений Сергеевич Тимофеев — студент института педиатрии и репродуктивной медицины

Екатеринбург

Evgeniy S. Timofeev — Specialist’s Degree Student of the Institute of Pediatrics and Reproductive Medicine

Ekaterinburg

timofeevu15@mail.ru

Уральский государственный медицинский университетРоссияUral State Medical UniversityRussian Federation

2024

12122024

236

132–150

2024

Вахлова И.В., Федотова Г.В., Тимофеева М.С., Тимофеев Е.С.

Vakhlova I.V., Fedotova G.V., Timofeevа M.S., Timofeev E.S.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.umjusmu.ru/jour/article/view/1647

Введение

Введение. Дефицит альфа-1-антитрипсина (AAT) — недостаток ингибитора протеаз, приводящий к деструкции легких и повреждению печени. Клинические проявления AAT сильно варьируются, зависят от фенотипа и факторов окружающей среды. Единственным доступным методом лечения дефицита AAT является заместительная терапия.

Цель работы — систематизировать текущие данные о патогенезе, клинических проявлениях и современных методах лечения дефицита AAT для повышения осведомленности педиатров об этой патологии.

Материалы и методы

Материалы и методы. Поиск литературы проводился в базах данных еLibrary.ru, PubMed, российских и зарубежных профильных медицинских журналах.

Результаты и обсуждение

Результаты и обсуждение. Дефицит AAT вызывается мутациями в гене SERPINA1. В Европе распространенность дефицита AAT варьируется в пределах от 1 : 1 800 до 1 : 2 500 новорожденных. Мутации в гене приводят к неправильной сборке молекулы AAT (Z-белка) с последующим накоплением этих молекул и аномальной полимеризацией в гепатоцитах, ч то приводит к гепатиту. В результате недостаточной секреции в системный кровоток AAT ослабляется антипротеазная защита и усиливаются воспалительные процессы в легких. В настоящее время терапия, повышающая уровень сывороточного AAT, в которой используется белок, очищенный из плазмы здорового человека, остается единственным специфическим фармакологическим вмешательством, доступным для лечения дефицита AAT.

Заключение

Заключение. Дефицит AAT — аутосомно-рецессивное заболевание, требующее знаний особенностей клинических проявлений, начиная с детского возраста. Существует большой потенциал в использовании генной терапии для лечения заболеваний, связанных с дефицитом AAT.

Introduction

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

Materials and methods. The literature search was carried out in the eLibrary.ru database, PubMed, Russian and foreign specialized medical journals.

Results and discussion

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

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.

альфа-1-антитрипсиндетиSERPINA1гепатитэмфиземапротеазыгенная терапия

alpha-1 antitrypsinchildrenSERPINA1hepatitisemphysemaproteasesgene therapy

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The authors declare that there are no conflicts of interest present.