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线粒体病是一组与线粒体氧化磷酸化功能异常相关的遗传代谢性疾病。其中线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)是最常见的类型。其标志性的临床表现为卒中样发作,多同时伴随其他系统损害。辅助检查可以发现血乳酸酸中毒,MRI 检查多显示大脑后部皮质和皮质下白质的灶性损害。肌肉病理检查发现不整红边纤维(RRF)、琥珀酸脱氢酶深染的肌纤维(RBF)和微血管。多数患者的基因检查可以发现 mtDNA A3243G 点突变。
Mitochondrial disease is a group of inherited metabolic diseases associated with dysfunction of mitochondrial oxidative phosphorylation. Among them, mitochondrial encephalomyopathy with hyperlipidemia and stroke-like episodes (MELAS) are the most common types. Its landmark clinical presentation is a stroke-like episode, often accompanied by damage to other systems. Auxiliary examination can be found in blood lactic acidosis, MRI examination showed more than the posterior cerebral cortex and subcortical white matter focal damage. Muscle pathology revealed irregular red edge fibers (RRF), succinate dehydrogenase-stained muscle fibers (RBFs) and microvessels. Genetic testing of most patients can detect mtDNA A3243G point mutations.