Clinical and genetic analysis of 5 families with familial periodic paralysis caused by SCN4A gene mutation
Objective To report five families of familial periodic paralysis.Methods The 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.Results The probands carried heterozygous missense mutations of SCN4A gene c.3395G＞A p.Arg1 132Gln(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.Conclusions The 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.
万方数据
维普
