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Том 14 №1 2012 год - Нефрология и диализ

Нефропатический цистиноз: современные представления об этиологии и патогенезе (Обзор литературы)


Каган М.Ю.

Аннотация: Причиной цистиноза является мутация гена CTNS, кодирующего синтез лизосомального переносчика цистина. Накопление цистина внутри лизосом приводит к развитию у большинства пациентов генерализованной дисфункции проксимальных канальцев (синдром де Тони–Дебре–Фанкони ) на первом году жизни и прогрессирующей хронической болезни почек в течение первой декады жизни. После десятилетнего возраста манифестируют клинические проявления, свидетельствующие о повреждении экстраренальных органов. Лечение цистеамином, снижающим внутриклеточную концентрацию цистина, значительно замедляет темпы прогрессирования заболевания, но не оказывает влияние на многие патогенетические механизмы. В этом обзоре обсуждаются новые представления об этиологии и патогенезе данного заболевания.

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Ключевые слова: транспорт цистина, синдром Фанкони, глютатион, cystine transport, Fanconi syndrome, glutathione

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