SCN4A基因突变致家族性周期性麻痹5家系临床及遗传学分析  

Clinical and genetic analysis of 5 families with familial periodic paralysis caused by SCN4A gene mutation

作　　者：彭慧芳 李雪峰[2] 张颖裕 付留俊[1] 马瑜瑾 姜宏卫[1] Peng Huifang;Li Xuefeng;Zhang Yingyu;Fu Liujun;Ma Yujin;Jiang Hongwei(Henan Key Laboratory of Rare Diseases,Endocrinology and Metabolism Center of the First Affiliated Hospital,College of Clinical Medicine of Henan University of Science and Technology,Luoyang 471000,China;Department of Endocrinology and Metabolism,the Second Affiliated Hospital of Henan University of Science and Technology,Luoyang 471000,China)

机构地区：[1]河南科技大学临床医学院,河南科技大学第一附属医院内分泌代谢中心,河南省罕见病重点实验室,洛阳471000 [2]河南科技大学第二附属医院内分泌与代谢性疾病科,洛阳471000

出　　处：《中国医师杂志》2024年第12期1803-1807,共5页Journal of Chinese Physician

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20210598)。

摘　　要：目的报道家族性周期性麻痹5家系。方法回顾性收集2017—2022年期间就诊于河南科技大学第一附属医院并经遗传学检测诊断为SCN4A基因突变所致的家族性周期性麻痹5家系,分析患者临床及遗传学资料。结果先证者分别携带SCN4A基因c.3395G>A p.Arg1132Gln(病例1)、c.2015G>A p.Arg672His(病例2、病例3)、c.2006G>A p.Arg669His(病例4)、c.2111C>T p.Thr704Met(病例5)杂合错义突变。其中4名先证者诊断为低钾型周期性麻痹,1名考虑正常血钾型周期性麻痹。急性发作期治疗以补钾为主,院内以静脉输注氯化钾联合口服氯化钾缓释片的方式进行补钾,同时密切监测血钾水平及心电监护;院外以合理生活方式避免诱因为主。结论SCN4A基因突变所致临床表现多样,在诊治和遗传咨询中需特别注意,遗传学检测是重要的分子遗传诊断方法。ObjectiveTo report five families of familial periodic paralysis.MethodsThe clinical and genetic data of 5 families with familial periodic paralysis caused by SCN4A gene mutation who visited the First Affiliated Hospital of Henan University of Science and Technology from 2017 to 2022 were analyzed retrospectively.ResultsThe probands carried heterozygous missense mutations of SCN4A gene c.3395G>A p.Arg1132Gln(Case 1),c.2015G>A p.Arg672His(Case 2 and case 3),c.2006G>A p.Arg669His(Case 4),c.2111C>T p.Thr704Met(Case 5),respectively.Among them,four probands were diagnosed as hypokalemic periodic paralysis,one patient considered normal blood potassium periodic paralysis,and the treatment of acute attack was mainly potassium supplement.The main treatment for acute attacks was potassium supplementation,which was administered through intravenous infusion of potassium chloride combined with oral potassium chloride sustained-release tablets in the hospital.Simultaneously blood potassium levels and electrocardiogram monitoring were closely monitored.The main approach outside the hospital was to adopt a reasonable lifestyle and avoid triggering factors.ConclusionsThe clinical manifestations caused by SCN4A gene mutation are diverse,and special attention should be paid in diagnosis,treatment and genetic counseling.Gene sequencing is an important molecular genetic diagnostic method.

关 键 词：麻痹 家族周期性 低钾血症 SCN4A基因 

分 类 号：R596.1[医药卫生—内科学]