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12、atal impaired kidney function J.Kidney Int Rep,2020,5(12):2301-2312.(编辑:邓境)(收稿日期:2021-11-17 修回日期:2022-01-23)doi:10.13407/ki.jpp.1672-108X.2023.07.013论著S SC CN N5 5A A 基基因因突突变变相相关关儿儿童童心心律律失失常常临临床床分分析析张海燕,姚如恩,许静(上海交通大学医学院附属上海儿童医学中心,上海 200127)作者简介:张海燕(1973.05-),女,大学专科,主管技师,主要从事儿童心电功能的综合评价工作,E-mail:haiy
13、an73may 。通信作者:许静(1971.03-),女,大学本科,副主任医师,主要从事儿童意识障碍等心脑功能的综合评价工作,E-mail:xujing321 。摘要目的:探讨 SCN5A 基因突变与儿童心律失常的关系。方法:回顾分析 2018 年 1 月至 2020 年 6 月我院诊治的 8 例心律失常合并 SCN5A 基因突变患儿的临床资料。结果:8 例患儿中男 7 例、女 1 例,年龄 5.5(2.57.0)岁。晕厥发作为主要临床表现,发生率为 87.5%(7/8)。其中 1 例晕厥发作与窦性静止、房扑有关,6 例晕厥发作与室性心动过速发生有关。6 例发生室性心动过速的患儿中,结合心电图
14、及基因检查,4 例诊断为 Brugada 综合征(Brs),1 例为 3 型长 QT 间期综合征(LQT3),1 例为 Brs合并 LQT3。3 例患儿合并有左心功能射血分数的明显下降。结论:SCN5A 基因突变与儿童恶性心律失常有关,需要引起重视,必要时应尽早行基因组测序予以精准的治疗。关键词SCN5A 基因;Brugada 综合征;长 QT 间期综合征中图分类号R725.4 文献标识码A 文章编号1672-108X(2023)07-0048-0484儿科药学杂志 2023 年第 29 卷第 7 期 Journal of Pediatric Pharmacy 2023,Vol.29,No.7
15、Clinical Analysis of SCN5A Gene Mutation Related Arrhythmia in ChildrenZhang Haiyan,Yao Ruen,Xu Jing(Shanghai Childrens Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China)AbstractObjective:To investigate the correlation between SCN5A gene mutation and arrhythmia in
16、 children.Methods:Clinical data of 8 patients with arrhythmia complicated with SCN5A gene mutation diagnosed and treated in our hospital from Jan.2018 to Jun.2020 were retrospectively analyzed.Results:Among the 8 patients,7 were males and 1 was female,with age of 5.5(from 2.5 to 7.0)years.Syncope was the main clinical manifestation,with an incidence of 87.5%(7/8).One case of syncope was related to sinus arrest and atrial flutter,and 6 cases were related to ventricular tachycardia.Combined with e