CAJ | 학술논문

新生儿糖尿病是一组异质性单基因遗传病,常被误诊为1型糖尿病.永久性新生儿糖尿病与免疫无关,主要与KCNJ 11、ABCC8和胰岛素基因等基因突变有关；多以酮症酸中毒起病,伴宫内发育迟缓、脱水.基因检测有助于疾病分型,并可根据不同致病基因进行靶向治疗.对于ATP敏感的K+通道基因突变的永久性新生儿糖尿病患儿可口服磺脲类降糖药(如格列苯脲)替代胰岛素治疗.
신생인당뇨병시일조이질성단기인유전병,상피오진위1형당뇨병.영구성신생인당뇨병여면역무관,주요여KCNJ 11、ABCC8화이도소기인등기인돌변유관；다이동증산중독기병,반궁내발육지완、탈수.기인검측유조우질병분형,병가근거불동치병기인진행파향치료.대우ATP민감적K+통도기인돌변적영구성신생인당뇨병환인가구복광뇨류강당약(여격렬분뇨)체대이도소치료.
Neonatal diabetes mellitus ( NDM ),which was often misdiagnosed as type 1 diabetes in the past,is a heterogenous single-gene genetic disease.Permanent neonatal diabetes( PNDM )is mainly associated with mutation in KCNJ11,ABCC8,and insulin associated gene instead of immunity.The most common manifestation includes diabetic ketoacidosis,intrauterine growth retardation and dehydration.Gene examination contributes to the classification of NDM and corresponding targeted therapy.Oral sulfonylurea may be used in treating patients with gene mutation of ATP-sensitive K+ channel.