НАСЛЕДСТВЕННЫЕ НЕКОНЪЮГИРОВАННЫЕ ГИПЕРБИЛИРУБИНЕМИИ
Аннотация
К врожденным наследственным неконьюгировнным гипербилирубинемиям относятся синдромы Жильбера, Криглера-Найяра 1 типа и Криглера-Найяра 2 типа (или болезнь Arias). В их основе лежит наследственный дефицит фермента – билирубин-уридин-5'-дифосфатглюкуронозилтрансферазы (UGT1A1), участвующего в глюкуронизации билирубина. Дефицит фермента обусловлен мутациями гена UGT1A1, который обеспечивает активность UGT1A1. Полная или почти полная потеря (синдром Криглера-Найяра 1 типа) или снижение активности (синдром Жильбера и синдром Криглера-Найяра 2 типа) UGT1A1 приводят к нарушению конверсии билирубина в печени с накоплением в крови неконьюгированного билирубина. Синдромы различают по уровню билирубина в плазме крови, реакции на введение фенобарбитала, наличию или отсутствию глюкуронидов билирубина в желчи.
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