Alagille syndrome in adult patients:: It is never too late
Alagille syndrome in adult patients:: It is never too late
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DOI：
10.1053/j.ajkd.2007.02.262
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发表时间：
2007-05-01
影响因子：
13.2
通讯作者：
Fakhouri, Fadi
中科院分区：
文献类型：
--
作者：
Jacquet, Antoine;Guiochon-Mantel, Anne;Fakhouri, Fadi
阿拉杰里综合征（AGS；人类孟德尔遗传在线编号118450）是一种多系统常染色体显性遗传病，其表现具有高度变异性，特征为小叶间胆管缺乏导致的慢性胆汁淤积、骨骼异常、特殊面容、眼部异常以及心血管疾病。AGS几乎仅在以肝脏表现为主的儿童中被诊断出来，在其成年亲属中诊断则更为罕见。我们报道了2例患者，他们在没有明确家族史的情况下，因肾脏疾病检查在成年时被诊断为AGS。由AGS引起的肾脏疾病在成年患者中可能诊断不足。
Alagille syndrome (AGS; Online Mendelian Inheritance in Man no. 118450) is a multisystem autosomal dominant disorder with highly variable expression characterized by chronic cholestasis caused by a paucity of interlobular bile ducts, skeletal abnormalities, peculiar facies, ocular abnormalities, and cardiovascular disorders. AGS is diagnosed almost exclusively in children in the setting of predominant liver manifestations or, more rarely, in their adult relatives. We report 2 patients in whom AGS was diagnosed in adulthood during the workup of renal disease in the absence of a well-defined familial history. Renal disease caused by AGS probably is underdiagnosed in adult patients.