Hadchouel Michelle
INSERM U347 and Départment de Pédiatrie, Hĵpital de Bicêtre, Le Kremlin-Bicêtre, France.
Indian J Pediatr. 2002 Sep;69(9):815-8. doi: 10.1007/BF02723697.
Alagille syndrome (AGS) was described more than 35 years ago as a genetic entity characterised by five major features: chronic cholestasis owing to paucity of interlobular bile ducts; peripheral pulmonary stenosis; butterfly like vertebral arch defect; posterior embryotoxon and peculiar facies. AGS has long been said to have a relative good prognosis but overall survival at twenty years averages 70%. Complex congenital heart disease and hepatic disease with or without liver transplantation contribute significantly to mortality. JAGGED1 has been identified as a responsible gene by demonstration of mutations in AGS patients. Studies of JAGGED1 expression pattern demonstrate that minor features and almost all the elements in the long list of manifestations described in AGS patients are not coincidental. This suggests that Alagille syndrome definition may be revisited in the light of JAGGED1 mutations.
阿拉吉耶综合征（AGS）在35多年前被描述为一种具有五个主要特征的遗传疾病：由于小叶间胆管缺乏导致的慢性胆汁淤积；外周肺动脉狭窄；蝴蝶样椎弓缺损；后胚胎毒素和特殊面容。长期以来，人们一直认为AGS的预后相对较好，但20年的总体生存率平均为70%。复杂的先天性心脏病和有或无肝移植的肝脏疾病是导致死亡的重要因素。通过在AGS患者中发现突变，JAGGED1已被确定为致病基因。对JAGGED1表达模式的研究表明，AGS患者所描述的众多表现中的次要特征和几乎所有要素并非偶然。这表明，鉴于JAGGED1突变，阿拉吉耶综合征的定义可能需要重新审视。
