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Патофизиологические аспекты поражения печени у детей при недостаточности альфа-1-антитрипсина

https://doi.org/10.21508/1027-4065-2020-65-1-11-21

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Аннотация

Дефицит альфа-1-антитрипсина представляет собой аутосомно-рецессивное заболевание, характеризующееся поражением печени у детей и взрослых, а также заболеванием легких, обусловленным снижением соответствующего содержания белка в сыворотке вследствие мутаций в гене PI (proteinase inhibitor). Большинство заболеваний печени связано с гомозиготной мутацией по аллелю Z. У детей с генотипом PI*ZZ клинические проявления заболевания печени могут сильно варьировать. В неонатальном периоде заболевание печени обычно носит холестатический характер и сопровождается длительной холестатической желтухой, кожным зудом, определить который объективно можно лишь в более старшем возрасте (после 6 мес), снижением аппетита и отставанием в прибавке массы тела, гепато- и спленомегалией. В статье представлен обзор патофизиологии поражения печени при дефиците альфа-1-антитрипсина у детей. Изложены рекомендации по ведению детей с подозрением и подтвержденным дефицитом альфа-1-антитрипсина.

Об авторах

Г. В. Волынец
ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева»; ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России
Россия

Волынец Галина Васильевна – д.м.н., гл. науч. сотр. отдела гастроэнтерологии 

125412 Москва, ул. Талдомская, д. 2



А. В. Никитин
ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева»; ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России
Россия

Никитин Артем Вячеславович – к.м.н., вед. науч. сотр. отдела гастроэнтерологии, асс. кафедры гастроэнтерологии 

125412 Москва, ул. Талдомская, д. 2



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Для цитирования:


Волынец Г.В., Никитин А.В. Патофизиологические аспекты поражения печени у детей при недостаточности альфа-1-антитрипсина. Российский вестник перинатологии и педиатрии. 2020;65(1):11-21. https://doi.org/10.21508/1027-4065-2020-65-1-11-21

For citation:


Volynets G.V., Nikitin A.V. Pathophysiological aspects of liver damage in children with alpha-1-antitrypsin deficiency. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2020;65(1):11-21. (In Russ.) https://doi.org/10.21508/1027-4065-2020-65-1-11-21

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