母系遗传性糖尿病伴耳聋家系患者的临床和mtDNA A3243G点突变研究  

Clinic and mtDNA A3243G mutation study in genealogy of maternally inherited diabetes and deafness(MIDD)

作　　者：姚生[1] 戚晓昆[1] 雷霞[1] 王朝霞[2] 袁云[2] 

机构地区：[1]北京海军总医院神经内科,100037 [2]北京大学第一医院神经内科

出　　处：《中国糖尿病杂志》2009年第11期808-810,共3页Chinese Journal of Diabetes

摘　　要：目的探讨母系遗传性糖尿病伴耳聋(MIDD)患者的临床及mtDNA A3243G点突变特点。方法收集5个MIDD家系成员的临床资料,以及部分外周血白细胞DNA标本,检测mtDNA A3243G点突变情况。结果 5个家系患者共24例,平均发病年龄约33岁;临床表型包括MIDD、线粒体糖尿病、感音神经性耳聋、线粒体脑肌病伴乳酸血症和卒中发作以及线粒体心肌病等。主要临床表现为消瘦、乏力、耳聋、卒中样发作、心悸等症状。有16例患者进行了基因检查,12例发现mtDNA A3243G点突变。结论 MIDD家系成员的临床表型异质性明显,耳蜗神经及胰腺最易受累,mtDNAA3243G突变率较高。Objective To investigate the clinical and mtDNA A3243G mutation characteristics of MIDD patients. Methods We collected 5 MIDD family members＇ clinical data and part DNA sample of peripheral blood leucocytes to detect the mtDNAA3243G gene mutations. Results There were 24 cases out of the 5 families, and the average age of onset was 33 years. The clinical phenotypes included MIDD, MDM, SNHL, MELAS, and MCM. The main clinical features were emaciation, hypodynamia, deafness, stroke-like episodes, and palpitation. Among them, there were 19 cases （79%） with hearing loss, 16 cases （67%） with raised blood sugar, 8 cases （33%） with cardiac involvement, 7 cases （29%） with stroke-like episodes. The 16 cases in the 5 families had gene test, and 12 cases （75 %） were found to show mtDNAA3243G gene mutations. Conclusions All the patients in MIDD genealogy are maternal members, having obvious clinical phenotype in heterogeneity. The cochlear nerve and pancreas are most easily involved. The mutation rate of mtDNA A3243G is high.

关 键 词：糖尿病 遗传性 母系 耳聋 遗传性 突变 线粒体 

分 类 号：R587.2[医药卫生—内分泌] R764.43[医药卫生—内科学]