新生儿糖尿病研究进展  

Progress of neonatal diabetes mellitus

作　　者：刘颖（综述）[1] 陶于洪（审校）[1] 

机构地区：[1]四川大学华西第二医院儿科,成都610041

出　　处：《国际儿科学杂志》2011年第6期606-608,共3页International Journal of Pediatrics

摘　　要：新生儿糖尿病是一组异质性单基因遗传病，常被误诊为l型糖尿病。永久性新生儿糖尿病与免疫无关，主要与KCNJ11、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。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, ABCCS, 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.

关 键 词：新生儿糖尿病 基因突变 治疗 

分 类 号：R587.1[医药卫生—内分泌]