Clinical and genetic analysis of 5 families with familial periodic paralysis caused by SCN4A gene mutation
10.3760/cma.j.cn431274-20240115-00098
- VernacularTitle: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
- Author:
Huifang PENG
1
;
Xuefeng LI
;
Yingyu ZHANG
;
Liujun FU
;
Yujin MA
;
Hongwei JIANG
Author Information
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
- Publication Type:Journal Article
- Keywords:
Paralyses, familial periodic;
Hypokalemia;
SCN4A gene
- From:
Journal of Chinese Physician
2024;26(12):1803-1807
- CountryChina
- Language:Chinese
-
Abstract:
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. 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.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.
