摘要
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。
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.
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2014年第11期1188-1192,共5页
Chinese Journal of Contemporary Pediatrics
