Ma Yan-Li, Song Yuan-Zong
Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2014 Nov;16(11):1188-92.
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 (ALGS type 1) or NOTCH2 (ALGS type 2) gene, affecting multiple organs or systems such as liver, heart, eyes, vertebrate and face. The main clinical features of ALGS include chronic cholestasis, congenital heart disease, mild vertebral segmentation 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.
阿拉吉耶综合征（ALGS），也称为动脉肝发育不良，是一种常染色体显性疾病，累及多个系统。在这种疾病中，由于JAG1基因（1型ALGS）或NOTCH2基因（2型ALGS）发生突变，Notch信号通路受损，从而影响肝脏、心脏、眼睛、脊椎和面部等多个器官或系统。ALGS的主要临床特征包括慢性胆汁淤积、先天性心脏病、轻度脊椎节段异常、特征性面容、角膜后胚胎环和肾脏发育不良。本文综述了该综合征在发病机制、临床表现、诊断和治疗方面的最新进展。
