CAJ | 학술논문

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.
신생인고이도소-고혈안종합정시일충곡안산탈경매기인돌변도치적유전성질병,림상표현위저혈당、고이도소화경도고혈안.진식단백질가신속유발저혈당,신생인기기병자소견,역피홀시혹연오진치,도치엄중신경계통후유증.본문취해질병적발병궤제、림상표현급진료현상가이개술총결.
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.