Alagille综合征诊断治疗进展

Alagille 综合征(Alagille syndrome, ALGS)又称为动脉-肝脏发育不良,是一种常染色体显性遗传的多系统疾病.该病患者JAG1 基因(1 型ALGS)或者NOTCH2 基因突变(2 型ALGS)导致Notch 信号通路缺陷,从而影响肝脏、心脏、眼睛、脊椎和面部等多个器官或系统.其主要的临床特征有慢性胆汁淤积、先天性心脏病、轻微椎体分割异常、特征性面容、角膜后胚胎环,以及肾脏发育不良等.该文从ALGS 的病因、发病机制、诊断和治疗等方面的进展作一综述.

Advances in the diagnosis and treatment of Alagille syndrome

Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is an autosomal dominant disease with multisystem involvement. In this disease, the Notch signalling pathway is impaired due to mutation in JAG1 (ALGStype 1) or NOTCH2 (ALGS type 2) gene, affecting multiple organs or systems such as liver, heart, eyes, vertebrateand face. The main clinical features of ALGS include chronic cholestasis, congenital heart disease, mild vertebralsegmentation abnormalities, characteristic face, postcorneal embryotoxon and poor kidney development. This article reviews the recent advances in the pathogenesis, clinical presentations, diagnosis and treatment of this syndrome.