线粒体肌病与线粒体脑肌病的临床分析

The clinical analysis of mitochondrial myopathy and mitochondrial encephalomyopathy

目的探讨神经肌肉系统线粒体病的发病机制、临床与病理特征及诊断。方法对7例确诊为线粒体病患者的临床表现、病理检查、实验室与影像学资料进行了回顾性分析。结果该组患者诊断为线粒体肌病3例,线粒体脑肌病4例;其中2例患者血乳酸水平升高;7例患者肌电图均有异常发现,肌肉活检均有特征性的改变;4例线粒体脑肌病患者头部影像学均有异常改变。结论线粒体病主要累及肌肉及中枢神经系统,诊断要求多种手段结合,以临床和病理表现为主,近年来基因方面的研究及影像学诊断发展迅速,目前对本病主要采取对症治疗。

Objective To investigate the pathogenesis,diagnosis, clinical and pathological features of the mitochondrial disease of neuromuscular system. Method Seven patients were retrospectively studied in term of the clinical manifestations, pathological examination,laboratory and imaging data. Results Three of the seven patients were diagnosed as mitochondrial myopathy, and four cases mitochondrial encephalomyopathy. The blood lactate level elevated in two cases. EMG abnormalities and characteristic change of the muscle biopsy were found in all the seven cases. The abnormal changes of the head imaging were found in the four cases of patients with mitochondrial encephalomyopathy. Conclusion Mitochondrial disease mainly involves the muscles and central nervous system. Its diagnosis mainly depends on clinical and pathological performance. Recently the genetic study and diagnostic imaging are developing rapidly. Symptomatic treatment is the main treatment.