Wolcott-Rallison综合征的遗传发病机制及诊疗进展  

Wolcott-Rallison syndrome:Genetic pathogenesis and advance in diagnosis and treatment

作　　者：杨文利[1] 桑艳梅[1] 

机构地区：[1]北京儿童医院内分泌及遗传代谢中心,100045

出　　处：《中国糖尿病杂志》2014年第5期469-470,共2页Chinese Journal of Diabetes

基　　金：北京市卫生系统高层次卫生技术人才培养计划(2011-3-051)

摘　　要：Wolcott-Rallison综合征(WRS)以永久性新生儿糖尿病、多发性骨骺发育不良为主要临床表现,致病基因为编码真核生物翻译起始因子2a激酶3的基因。WRS综合征发病率极低,预后欠佳,患儿多于幼年死亡。本文就WRS综合征的遗传发病机制及诊疗进展进行综述,以提高临床医师对本病的认识。Wolcott-Rallison syndrome is associated with permanent skeletal dysplasia and caused by mutations in the gene encoding eukaryotic neonatal diabetes mellitus and translation initiation factor 2a kinase 3 （EIF2AK3）. Prognosis is poor and most patients die at a young age. The article aims at enhancing the consciousness of clinical doctors on finding WRS and improving the prognosis of such patients.

关 键 词：Wolcott-Rallison综合征 真核翻译始动因子2α激酶3基因 多发性骨骺发育不良 EIF2AK3 

分 类 号：R725.8[医药卫生—儿科]