神经系统线粒体病

Neurological mitochondrial diseases

线粒体病是一组由线粒体基因或核基因突变导致的代谢性疾病。随着线粒体医学的发展,线粒体病的临床谱系不断扩大,中国常见的线粒体病临床亚型包括线粒体脑肌病伴高乳酸血症及卒中样发作、Leigh综合征、慢性进行性眼外肌瘫痪和Leber遗传性视神经病,少见的亚型包括肌阵挛性癫痫伴随不整红边纤维、Kearns-Sayre综合征、线粒体胃肠脑肌病、Alpers病、肢带型线粒体肌病、感觉性共济失调神经病、神经病-共济失调-色素视网膜病综合征等。线粒体病的临床变异巨大,近几年有些患者的临床表现还不能划入已知的疾病分类。基因检查技术的进步显著改善了线粒体病的诊断路径。本文重点对线粒体的病理改变、部分类型的临床表现、辅助检查的流程以及治疗进行介绍,为临床工作提供指导。

Mitochondrial disease (MD) is a group of metabolic disorders, caused by mitochondrial DNA or nuclear DNA mutations. With the development of research in mitochondrial medicine, the phenotypic spectrum of MD has expanded significantly. The common phenotypes in Chinese population included mitochondrial encephalopathy with lactic acidosis and stroke like episodes, Leigh syndrome, Leber hereditary optic neuropathy and chronic progressive external ophthalmoplegia. The rare phenotype included myoclonic epilepsy with ragged-red fibers, Kearns-Sayre syndrome, sensory ataxic neuropathy, mitochondrial neurogastrointestinal encephalomyopathy, Alpers disease, limb girdle mitochondrial myopathy, neuropathy with ataxia and retinitis pigmentosa. However, considerable clinical variability exists and some individuals do not fit into the known disease category. The revolution in genetic technologies has dramatically improved the diagnosis strategy of MD. In this article the pathology, clinical symptoms, laboratory findings and therapy in MD are sumarrized so as to provide guidance for clinical practice.