以糖尿病酮症就诊的线粒体糖尿病1例并文献复习  

Mitochondrial diabetes mellitus treated with diabetic ketosis:case report and literature review

作　　者：马国翠 王珍珍 戴武[2] 曹永红[2] MA Guocui;WANG Zhenzhen;DAI Wu;CAO Yonghong(Graduate School of Bengbu Medical College,Bengbu,Anhui 233030,China;Endocrine Department,The Second People's Hospital of Hefei,Hefei,Anhui 230011,China)

机构地区：[1]蚌埠医学院研究生院,安徽蚌埠233030 [2]合肥市第二人民医院内分泌科,安徽合肥230011

出　　处：《安徽医药》2023年第7期1377-1380,共4页Anhui Medical and Pharmaceutical Journal

基　　金：合肥市卫生健康应用医学研究项目(合卫科教[2019]172号)。

摘　　要：报道1例入院时有糖尿病酮症,伴听力下降,体形瘦小的青年女性,有明显母系遗传家族史,病人病情重于其母亲。病人及母亲基因血液样本线粒体基因检测发现NC_012920.1:m.A3243G突变,确诊线粒体糖尿病;其异质性变异频率分别为34.7%和0.74%,异质性变异频率与发病严重程度相关。It was reported that one young woman with diabetes ketosis,hearing loss and small body size,had an obvious maternal genetic family history.The patient's condition was more serious than that of her mother.NC_012920.1:m.A3243G mutation was found in mitochondrial gene detection of patient and mother's blood samples,which was confirmed mitochondrial diabetes.The frequency of heterogeneity variation was 34.7%and 0.74%respectively,it suggests that the frequency of heterogeneity variation is related to the severity of the disease.

关 键 词：线粒体疾病 糖尿病酮症酸中毒 线粒体糖尿病 基因检测 异质性 

分 类 号：R587.1[医药卫生—内分泌]