散发型线粒体糖尿病一例报道  

Sporadic mitochondrial diabetes mellitus:a case report

作　　者：吴天琪 王敏 祝璇 樊嘉宝 甘路路 李玲[3] 晏益民[3] WU Tianqi;WANG Min;ZHU Xuan(Jinzhou Medical University,Jinzhou 121001,China)

机构地区：[1]锦州医科大学,121001 [2]武汉科技大学医学院 [3]武汉科技大学附属孝感医院、孝感市中心医院内分泌科

出　　处：《中国糖尿病杂志》2023年第9期707-710,共4页Chinese Journal of Diabetes

基　　金：湖北省医学青年拔尖人才项目(鄂卫通[2019]48号);湖北省卫生健康委联合基金青年人才项目(WJ2019H170);2020年孝感市自然科学计划项目(XGKJ2020010033)。

摘　　要：回顾性分析1例散发型线粒体糖尿病(MDM),系近亲结婚后代,年轻起病,伴肌肉乏力、听力下降,基因检测显示m.3243A>G突变,予Ins控制血糖,联合辅酶Q10、B族维生素改善线粒体功能。3个月后随访患者血糖控制正常,乏力好转,听力改善。年轻的DM患者出现神经性耳聋、神经肌肉病变、伴或不伴母系遗传等,需进行基因检测,以明确MDM后尽早诊治。A case of mitochondrial diabetes mellitus(MDM)was analyzed retrospectively.The patient was a descendant of close relative marriage.Diabetes related symptoms appeared when he was young,accompanied by muscle weakness and hearing loss.Gene detection showed mutation of m.3243A>G.Insulin therapy was given to control blood glucose,combined with coenzyme Q10 and B vitamins to improve mitochondrial function.After 3 months of follow⁃up,the blood glucose was well controlled,and the symptoms of fatigue and hearing loss were improved.If young onset DM patients have the characteristics of deafness,neuromuscular disease,with or without maternal inheritance,gene detection is needed to identify MDM,so as to achieve early diagnosis and treatment.

关 键 词：散发型 线粒体糖尿病 母系遗传 基因突变 

分 类 号：R587.1[医药卫生—内分泌]