3例K_(ATP)通道基因突变致新生儿糖尿病的基因及治疗分析  

Gene Analysis and Treatment of Neonatal Diabetes Mellitus Caused by Mutation of K_(ATP)Channel Gene in 3 Cases

作　　者：熊婷[1] 杨利[1] 余珍[1] 杨玉[1] XIONG Ting;YANG Li;YU Zhen;YANG Yu(Jiangxi Provincial Children's Hospital,Nanchang Jiangxi 330006,China)

机构地区：[1]江西省儿童医院,江西南昌330006

出　　处：《药品评价》2024年第4期466-469,共4页Drug Evaluation

摘　　要：目的提高临床医生对新生儿糖尿病(neonatal diabetes mellitus,NDM)的认识和诊治能力。方法分析3例NDM患儿,对其临床特点、基因及治疗结果进行分析总结并随访预后。结果3例患儿均考虑K_(ATP)通道基因突变,从胰岛素治疗成功过渡到格列本脲口服治疗。2例患儿目前仍在口服格列本脲,考虑为永久性新生儿糖尿病(PNDM),1例患儿治疗半年后停药,考虑为暂时性新生儿糖尿病(TNDM)。3例患儿现均无明显不良反应。结论K_(ATP)通道突变NDM患儿可从胰岛素过渡到格列本脲治疗,尽早完善基因检测,予磺脲类药物治疗可降低治疗成本,增加依从性,改善神经系统预后。Objective Enhance the identification and diagnosis of neonatal diabetes mellitus(NDM).Methods Analyzed three cases of NDM,examining their clinical features,gene results,treatment outcomes and monitore prognosis.Results Three cases successfully transitioned from insulin therapy to glibenclamide oral therapy due to K_(ATP)channel gene mutation.Two children were still taking oral glibenclamide,considered to have permanent neonatal diabetes mellitus(PNDM);one child discontinued the drug after six months of treatment and was considered to have transient neonatal diabetes mellitus(TNDM).No adverse reactions were observed in any of the cases.Conclusion Children with NDM caused by K_(ATP)channel mutation can transition from insulin to glibenclamide therapy.Early detection of the genetic mutation and administration of glibenclamide can reduce treatment costs,improve compliance,and enhance neurological prognosis.

关 键 词：新生儿糖尿病 K_(ATP)通道 磺脲类药物 

分 类 号：R722.1[医药卫生—儿科]