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    1. РНИМУ им. Н. И. Пирогова (Москва, Россия)

    Ключевые слова:дефицит кислой лизосомальной липазы,болезнь накопления эфиров холестерина,дислипидемия,гепатомегалия,Болезнь Вольмана

    Резюме: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.

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    Опубликовано :
    ПОРАЖЕНИЯ ПЕЧЕНИ ПРИ БОЛЕЗНИ ВОЛЬМАНА У ДЕТЕЙ. Экспериментальная и клиническая гастроэнтерология. 2017;137(01):68-77
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