低钾性和正常钾性周期性瘫痪共存一家系病例的临床、病理及遗传学特点  

The clinical,pathological,and genetic features of a family with both hypokalemic and normokalemic periodic paralysis

作　　者：陈涓涓[1] 邹文[1] 童晓欣[1] 张海鸥[1] 吴军[1] 

机构地区：[1]北京大学深圳医院,518036

出　　处：《中国神经免疫学和神经病学杂志》2014年第3期199-202,共4页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的报道1例由骨骼肌钠通道α1亚基(skeletal muscle sodium channelα1subunit)SCN4A基因p.Arg672His突变引起的低钾性和正常钾性周期性麻痹共存的病例,并分析该病例的临床、病理及遗传学特点。方法收集一家系共3例周期性麻痹患者的临床资料,并对其进行分析总结。对先证者行右侧腓肠肌活体组织检查。所有患者均行SCN4A基因检测。结果先证者男性,31岁,少年起病,存在低钾性和正常钾性周期性麻痹两种发作形式。该家系其余2例患者表现为典型低钾性周期性麻痹症状。先证者的肌肉病理可见大量核内移;还原型辅酶I四唑氮还原酶(NADH-TR)染色可见微小轴空现象。所有患者均存在SCN4Ap.Arg672His突变。结论 SCN4A基因的p.Arg672His突变可同时引发低钾性及正常钾性周期性麻痹。Objective To describe the clinical, pathological, and genetic features of a family with both hypokalemic and normokalemic periodic paralysis, which was caused by the skeletal muscle sodium channel cd subunit （SCN4A） gene p. Arg672His mutation. Methods Clinical materials of three patients in the family with periodic paralysis were analyzed. Muscle biopsy was performed in the proband. We directly sequenced all coding exons of SCN4A gene and their flanking intronic regions in genomic DNA from 3 patients. Results The proband, a 31-year-old men, had periodic paralysis since juvenile. He had both hypokalemic and normokalemic periodic paralysis phenotypes. There were two other patients in this family. Both of them had classic hypokalemic periodic paralysis phenotype. Muscle biopsy showed internal nuclei increase in muscle fibres. Minicore were apparent with oxidative enzyme stains. All the patients had the mutation of SCN4A p. Arg672His. Conclusions Hypokalemic and normokalemic periodic paralysis can coexist in the same patient caused by the mutation of SCN4A p. Arg672His.

关 键 词：麻痹 家族周期性 低钾性周期性麻痹 钠通道 肌 骨骼 

分 类 号：R746.3[医药卫生—神经病学与精神病学]