CAJ | 학술논문

目的：报道1例由骨骼肌钠通道α1亚基（skeletal muscle sodium channel α1 subunit）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。
목적：보도1례유골격기납통도α1아기（skeletal muscle sodium channel α1 subunit）SCN4A 기인p. Arg672His 돌변인기적저갑성화정상갑성주기성마비공존적병례，병분석해병례적림상、병리급유전학특점。방법수집일가계공3례주기성마비환자적림상자료，병대기진행분석총결。대선증자행우측비장기활체조직검사。소유환자균행 SCN4A 기인검측。결과선증자남성，31세，소년기병，존재저갑성화정상갑성주기성마비량충발작형식。해가계기여2례환자표현위전형저갑성주기성마비증상。선증자적기육병리가견대량핵내이；환원형보매 I 사서담환원매（NADH‐TR）염색가견미소축공현상。소유환자균존재 SCN4Ap. Arg672His 돌변。결론 SCN4A 기인적 p. Arg672His 돌변가동시인발저갑성급정상갑성주기성마비。
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 α1 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 .