新生儿高胰岛素-高血氨综合征  

Neonatal hyperinsulinism/hyperammonemia syndrome

作　　者：李丽华[1] 林方[1] 池婧涵[1] 封志纯[1] 

机构地区：[1]北京军区总医院附属八一儿童医院新生儿科,100700

出　　处：《中国小儿急救医学》2014年第9期583-585,共3页Chinese Pediatric Emergency Medicine

基　　金：中国博士后科学基金特别资助（2012T50890）

摘　　要：新生儿高胰岛素-高血氨综合征是一种谷氨酸脱氢酶基因突变导致的遗传性疾病,临床表现为低血糖、高胰岛素和轻度高血氨.进食蛋白质可迅速诱发低血糖,新生儿期起病者少见,易被忽视或延误诊治,导致严重神经系统后遗症.本文就该疾病的发病机制、临床表现及诊疗现状加以概述总结.Neonatal hyperinsulinism/hyperammonemia syndrome is a genetic disease result from glutamate dehydrogenase gene mutations.The clinical manifestations are hypoglycemia,hyperinsulinemia and mild hyperammonemia.Hypoglycemia may occur quickly due to eating protein.It is a rare neonatal disease that was easily ignored or delayed diagnosis and treatment causing serious sequelae of nervous system.This review summarized pathogenesis,clinical manifestation and diagnosis of the disease.

关 键 词：高胰岛素-高血氨综合征 谷氨酸脱氢酶 低血糖 新生儿 

分 类 号：R722.1[医药卫生—儿科]