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Экспериментальная и клиническая гастроэнтерология

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ПОРАЖЕНИЯ ПЕЧЕНИ ПРИ БОЛЕЗНИ ВОЛЬМАНА У ДЕТЕЙ

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Аннотация

Болезнь Вольмана или дефицит кислой лизосомальной липазы - редкое аутосомно-рецессивное заболевание, вызванное повреждающими мутациями гена LIPA. Возраст начала заболевания и темпы его прогрессирования вариабельны и обусловлены характером мутаций. Заболевание у детей грудного возраста характеризуется быстро прогрессирующим течением и проявлением и симптомов в первые недели жизни и даже внутриутробно. Эти пациенты редко доживают до 6 месяцев. У детей старшего возраста заболевание характеризуется сочетанием дислипидемии, гепатомегалии, повышением уровня трансаминаз и микровезикулярным стеатозом в биопсийном материале. У пациентов наблюдается повреждение печени с исходом в фиброз, цирроз, повышением уровней холестерина липопротеинов низкой плотности и снижение уровней холестерина липопротеинов высокой плотности. Уже в детском возрасте могут проявляться и признаки поражения сердечно-сосудистой системы. В обзоре представлены данные о перспективах заместительной ферментной терапии препаратом себелипаза альфа, представляющим собой рекомбинантную человеческую кислую лизосомальную липазу.

Об авторах

А. И. Хавкин
РНИМУ им. Н. И. Пирогова
Россия


О. Н. Комарова
РНИМУ им. Н. И. Пирогова
Россия


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Для цитирования:


Хавкин А.И., Комарова О.Н. ПОРАЖЕНИЯ ПЕЧЕНИ ПРИ БОЛЕЗНИ ВОЛЬМАНА У ДЕТЕЙ. Экспериментальная и клиническая гастроэнтерология. 2017;(1):68-77.

For citation:


Khavkin A.I., Komarova O.N. LIVER DAMAGE IN CHILDREN WITH WOLMAN DISEASE. Experimental and Clinical Gastroenterology. 2017;(1):68-77. (In Russ.)

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ISSN 1682-8658 (Print)