Alagille综合征是一种由于小叶间胆管数量减少引起的肝内胆汁淤积性疾病,是一种累及多系统的显性遗传性疾病。该综合征在1969年由Alagille等首次报道,并在1975年得到进一步阐述。Alagille综合征涉及的脏器包括肝脏、心脏、骨骼、眼睛和颜面等,国外报道该病的发病率约为1/70 000 Alagille syndrome is an intrahepatic cholestatic disease caused by a decrease in the number of interlobular bile ducts and is a dominant, hereditary disease involving multiple systems. The syndrome was first reported by Alagille et al in 1969 and was further elaborated in 1975. Alagille syndrome involved in organs, including liver, heart, bone, eyes and face, etc., the incidence of foreign reports of the disease is about 1/70 000