Дефицит альфа-1-антитрипсина у детей. Современный взгляд на проблему
https://doi.org/10.52420/umj.23.6.132
EDN: XDBAHW
Аннотация
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. Поиск литературы проводился в базах данных еLibrary.ru, PubMed, российских и зарубежных профильных медицинских журналах.
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. 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.
Об авторах
И. В. Вахлова
Уральский государственный медицинский университет
Россия
Конфликт интересов:
Россия
Ирина Вениаминовна Вахлова — доктор медицинских наук, профессор, заведующий кафедрой госпитальной педиатрии, директор, институт педиатрии и репродуктивной медицины
Екатеринбург
Конфликт интересов:
И. В. Вахлова — заместитель главного редактора «Уральского медицинского журнала»; не принимала участия в рассмотрении и рецензировании материала, а также принятии решения о его публикации. Остальные авторы заявляют об отсутствии явных и потенциальных конфликтов интересов.
Г. В. Федотова
Уральский государственный медицинский университет
Россия
Россия
Галина Викторовна Федотова — кандидат медицинских наук, доцент кафедры госпитальной педиатрии, институт педиатрии и репродуктивной медицины
Екатеринбург
М. С. Тимофеева
Уральский государственный медицинский университет
Россия
Россия
Мария Сергеевна Тимофеева — студент института педиатрии и репродуктивной медицины
Екатеринбург
Е. С. Тимофеев
Уральский государственный медицинский университет
Россия
Россия
Евгений Сергеевич Тимофеев — студент института педиатрии и репродуктивной медицины
Екатеринбург
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Вахлова ИВ, Федотова ГВ, Тимофеева МС, Тимофеев ЕС. Дефицит альфа-1-антитрипсина у детей. Современный взгляд на проблему. Уральский медицинский журнал. 2024;23(6):132–150. https://doi.org/10.52420/umj.23.6.132. EDN: XDBAHW
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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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