以心力衰竭为突出表现的线粒体基因突变糖尿病临诊应对  

Approach to the patient with mitochondriai gene mutation diabetes mellitus mainly manifested as heart failure： diagnosis and treatment

作　　者：苏杭[1] 周健[1] 潘静薇[2] 马晓静[1] 章紫晨 张蓉[1] 胡承[1] 刘芳[1] 包玉倩[1] 贾伟平[1] 

机构地区：[1]上海交通大学附属第六人民医院内分泌代谢科,上海市糖尿病临床医学中心,上海市代谢病临床医学中心,上海市糖尿病研究所.上海市糖尿病重点实验室,200233 [2]上海交通大学附属第六人民医院心内科,200233

出　　处：《中华内分泌代谢杂志》2015年第10期906-909,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：线粒体基因突变糖尿病是由线粒体DNA突变所致单基因病变，为β细胞功能遗传突变的一种特殊类型糖尿病。临床上常伴中枢神经系统表现、骨骼肌表现、心肌病、视网膜色素变性、神经性耳聋等。本文详细介绍1例以心力衰竭为突出表现的线粒体基因突变糖尿病的诊治经过，以使临床医师重视线粒体心肌病的诊治。[ Sununary ] Mitochondrial gene mutation diabetes, a special type of diabetes genetic mutation in beta cell, mainly caused by mutations in mitochondrial DNA. Clinical syndromes of mitochondrial gene mutation diabetes is frequent multisystemic disease involved, predominantly presents with central nervous system involvement, myopathy, cardiomyopathy, retinitis pigmentosa, and nerve deafness. Herein, we report in detail a case with mitochondrial gene mutation diabetes mellitus mainly manifested as heart failure, in order to call attention to the diagnosis and treatment of mitochondrial cardiomyopathy.

关 键 词：糖尿病 线粒体心肌病 

分 类 号：R587.2[医药卫生—内分泌] R542.2[医药卫生—内科学]