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目的探讨 mtDNA A3243G 点突变在成年患者的临床表现特点。方法对发病年龄在18岁以上的36例患者的临床资料进行分析(5个家系28例,散发8例),其中23例行 mtDNAA3243G 点突变检查(5个家系15例,散发8例),14例行头颅影像学检查,10例进行了骨骼肌病理检查。结果 5个家系的28例患者中出现糖尿病17例(60.7%)、耳聋16例(57.1%)、卒中样发作9例(32.1%),三者可以并存或单独出现,少见表现包括心肌病和肾脏损害。23例 mtDNA A3243G 点突变患者中线粒体脑肌病伴随乳酸血症和卒中样发作(MELAS)14例(61.0%),其主要表现为认知功能障碍、占语障碍和头痛;其余9例包括无症状的基因突变携带者3例(13.0%)、线粒体糖尿病和(或)神经性耳聋2例(8.7%)、自主神经功能异常2例(8.7%)、糖尿病伴不孕症1例(4.3%)和心肌病l例(4.3%)。14例 MELAS 患者的头颅影像学检查显示以枕叶和颞叶受累为主,额叶最少;10例肌肉病理检查发现9例存在不整红边纤维。mtDNA A3243G 点突变比例均值在 MELAS 患者为28.75%±13.69%,非 MELAS 患者为25.08%±11.54%,两者差异没有统计学意义。结论 mtDNAA3243G 点突变在成年患者主要累及中枢神经、胰岛以及听神经。认知功能障碍、言语障碍和头痛是成年 MELAS 的主要临床表现。家族中多例患者出现糖尿病和耳聋,提示该突变并非 MELAS 突变,应当关注 mtDNA A3243G 点突变家系中非 MELAS 患者的存在。
Objective To investigate the clinical features of mtDNA A3243G point mutation in adult patients. Methods The clinical data of 36 patients with age above 18 years old were analyzed (28 in 5 pedigrees and 8 in 5), of which 23 were examined by mtDNAA3243G point mutation (15 in 5 families and 8 in dissemination), 14 Routine head imaging, 10 cases of skeletal muscle pathology. Results There were 17 cases (60.7%) of diabetes, 16 cases of deafness (57.1%) and 9 cases of stroke-like episodes (32.1%) in 28 out of 5 pedigrees. The three cases could co-exist or separate. Kidney damage. Mitochondrial encephalomyopathy was associated with lactic acidosis and stroke-like episodes (MELAS) in 14 (61.0%) of 23 patients with mtDNA A3243G point mutations. The main manifestations were cognitive dysfunction, speech impairment and headache. The remaining 9 patients included none Three patients (13.0%) with mitochondrial diabetes mellitus and / or neurological deafness (8.7%), two patients with autonomic dysfunction (8.7%), and one diabetic infertility (4.3% ) And cardiomyopathy in 1 case (4.3%). 14 cases of MELAS patients with cranial imaging examination showed that the occipital lobe and temporal lobe involvement, with the least amount of frontal lobes; 10 cases of muscle pathology found in 9 cases there are irregular red edge fibers. The mean ratio of mtDNA A3243G point mutation was 28.75% ± 13.69% in MELAS patients and 25.08% ± 11.54% in non-MELAS patients, the difference was not statistically significant. Conclusion The mtDNAA3243G point mutation mainly affects the central nervous system, pancreatic islets and auditory nerve in adult patients. Cognitive impairment, speech impairment and headache are the major clinical manifestations of adult MELAS. Many patients with diabetes and deafness in the family suggest that the mutation is not a MELAS mutation and attention should be given to the presence of non MELAS patients in the mtDNA A3243G point mutation pedigree.