SCN4A基因Arg672His突变致低钾性周期性麻痹伴维生素D严重缺乏一例报道并文献复习  

Hypokalemic Periodic Paralysis with Severe Vitamin D Deficiency Caused by Arg672His Mutation of SCN4A Gene:a Case Report and Literature Review

作　　者：马福慧[1] 穆妮热·阿塔吾拉 周忠凯[1] 王新玲[1] 郭艳英[1] MA Fuhui;MUNIRE Atawula;ZHOU Zhongkai;WANG Xinling;GUO Yanying(Department of Endocrinology,People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China;Xinjiang Medical University,Urumqi 830054,China)

机构地区：[1]新疆维吾尔自治区人民医院内分泌科,新疆维吾尔自治区乌鲁木齐市830001 [2]新疆医科大学,新疆维吾尔自治区乌鲁木齐市830054

出　　处：《中国全科医学》2021年第36期4671-4674,共4页Chinese General Practice

基　　金：新疆维吾尔自治区人民医院院内项目(20190108)。

摘　　要：低钾性周期性麻痹(HypoPP)是一种常染色体显性遗传性离子通道疾病,以反复发作、骨骼肌松弛性瘫痪、低钾血症为主要特征。研究表明,约60%的HypoPP由CACNA1S基因R528H和RI239H突变导致,中国人群及东亚人群以CACNA1S基因突变多见,而SCN4A基因突变较为少见。本文报道了1例SCN4A基因Arg672His突变所致HypoPP伴维生素D严重缺乏患者,并进行了文献复习,提示维生素D缺乏可能导致腹泻并诱发HypoPP,临床发现低钾血症患者并明确排除其他病因后,需考虑到HypoPP的可能。Hypokalemic periodic paralysis(HypoPP)is an autosomal dominant ion channel disease with major presentations of recurrent episodes of flaccid paralysis of skeletal muscle,and hypokalemia.About 60%of HypoPP cases have been reported to be caused by R528H and RI239H mutations in the CACNA1S gene.CACNA1S gene mutation is more common in Chinese and East Asian populations,but SCN4A gene mutation is relatively rare.We reported a case of HypoPP with severe vitamin D deficiency caused by SCN4A gene Arg672His mutation,and conducted a literature review,the findings suggest that vitamin D deficiency may cause diarrhea and secondary HypoPP,so hypokalemia patients may be considered to have HypoPP when other diseases are excluded.

关 键 词：低钾性周期性麻痹 维生素D缺乏 DNA突变分析 SCN4A基因 病例报告 历史文献 

分 类 号：R746.3[医药卫生—神经病学与精神病学] R591.44[医药卫生—临床医学]