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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 features and mtDNA A3243G point mutation in patients with maternal genetic diabetic deafness (MIDD). Methods The clinical data of five MIDD pedigrees and DNA samples of some peripheral blood leucocytes were collected to detect the point mutation of mtDNA A3243G. Results A total of 24 pediatric patients were enrolled in this study. The mean age at onset was 33 years. The clinical phenotypes included MIDD, mitochondrial diabetes, sensorineural deafness, mitochondrial encephalomyopathy with lactic acidosis and stroke and mitochondrial cardiomyopathy. The main clinical manifestations of weight loss, fatigue, deafness, stroke-like episodes of heart palpitations and other symptoms. Twenty-six patients had a genetic test and 12 had mtDNA A3243G point mutations. Conclusion The phenotypic heterogeneity of MIDD pedigree is obvious. The cochlear nerve and pancreas are the most susceptible. The mutation rate of mtDNAA3243G is high.