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Kearns-Sayer综合症(KSS)是一种以眼肌麻痹,视网膜变性和心脏传导功能障碍为特征的线粒体神经肌病。本文报导5例KSS病人,用辅酶Q_(10)(CoQ)治疗取得良好效果。作者对CoQ的代谢及其作用机理进行了研究。本组病例表现为眼肌麻痹、睑下垂、视网膜变性、听力丧失和肌无力。脑脊液(CSF)蛋白含量增加。肌肉活检电镜检查提示红肌纤维形态破碎,异常线粒体数目增加。心电图有传导系统障碍,运动后ST段下降或心律紊乱。心肌活检提示线粒体数目增加,但无形态改变。运动后静脉血中乳酸+丙酮酸盐的含量或乳酸/丙酮酸盐的比率增加。一例智能障碍,一例共济失调。4例正中神经感觉诱发电位(MN-SEP)潜伏期延长。2例血清叶酸含量降低,叶酸在CSF/血清中含量比率降低。除例5外,横纹肌线粒体电子转运系统活性均正常。由于病人
Kearns-Sayer Syndrome (KSS) is a mitochondrial neuromuscular disease characterized by ophthalmoplegia, retinal degeneration and cardiac conduction disorders. This article reports 5 cases of KSS patients, coenzyme Q_ (10) (CoQ) treatment achieved good results. The authors studied the metabolism of CoQ and its mechanism of action. This group of patients showed ophthalmoplegia, ptosis, retinal degeneration, hearing loss and muscle weakness. Cerebrospinal fluid (CSF) protein content increased. Muscle biopsy electron microscopy showed red muscle fiber morphology broken, an increase in the number of abnormal mitochondria. Electrocardiogram conduction system disorders, ST segment decline after exercise or heart rhythm disorders. Myocardial biopsy showed an increase in the number of mitochondria, but no morphological changes. Post-exercise venous blood lactate + pyruvate content or lactate / pyruvate ratio increased. A case of mental retardation, a case of ataxia. Four cases of median nerve sensory evoked potentials (MN-SEP) latency was prolonged. Two cases of serum folate decreased, folic acid in the CSF / serum content decreased. Except for Example 5, the activities of mitochondrial electron transport system were all normal. Because of the patient