Alagille综合征是具有表型特征的慢性胆汁淤积的最常见原因,是一种累及多系统的显性遗传性疾病[1]。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[2]。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1/70000。国内 Alagille syndrome is the most common cause of chronic cholestasis with phenotypic characteristics and is a dominant genetic disorder involving multiple systems [1]. The syndrome was first reported by Alagille et al in 1969 and further elaborated in 1975 [2]. Alagille syndrome involving organs, including liver, heart, bone, eyes and face, etc., the incidence of foreign reports of the disease is about 1/70000. domestic