线粒体基因突变糖尿病家系一例分析与文献复习

通过分析一例伴有耳聋的糖尿病患者及其家系成员的临床特征和家系基因谱,从临床、生化、基因水平进行文献复习,以明确线粒体基因突变糖尿病及并发症的诊断.先证者体型消瘦、皮肤黝黑,活动耐量减低,胰岛功能进行性下降,血乳酸水平升高,肾小球滤过率正常,尿常规隐血持续阳性,且合并肠息肉,心律失常.该家系多人患有糖尿病,除先证者次兄体健外,先证者及其长兄患有糖尿病,并伴有听力下降;其母亲死于糖尿病并发症,其女听力轻度下降,血糖尚正常.家系中所有听力下降的患者基因测序结果均为线粒体基因（3243A→G）突变.文献复习表明线粒体基因突变糖尿病有多种表型,基因测序有助于最终诊断.

Analysis of a Chinese patient and her family members with mitochondrial diabetes mellitus and literature review

To investigate the clinical features and mitochondrial mutation for a female diabetes patient with overt neural hearing loss and literature review.A female diabetes patient with overt neural hearing loss was hospitalized in the endocrine section of our hospital from 2009 to 2013.We retrospected her clinical data,and detected the mitochondrial mutation for the proband and her family members.The prob and presented symptoms of emaciation,dark skin,poor resistance,islet function decrease,blood lactate levels elevation,normal glomerular filtration rate,hematuresis continued presence,and combined with intestinal polyps and arrhythmia.Most of the families suffered from diabetes mellitus,the mother of the proband died of diabetic complications.One of the proband＇ s brothers diagnosed as diabetes mellitus with mildly decreased hearing; another brother was healthy; her daughter had mildly hearing defect but normal blood glucose.Mitochondrial 3243A→G mutation was detected in the proband and the members with hearing defect.The diabetic patient who presents the hearing defect and elevated lactic acid levels should be significantly suspected of mitochondrial diabetes.Gene sequencing is helpful to diagnose of mitochondrial diabetes.