细丝蛋白A基因突变引起肺动脉高压1例  

Case report of pulmonary hypertension caused by filamin A mutation

作　　者：邓晓娴[1,2] 郑璇 周红梅[1] 张刚成 Deng Xiaoxian;Zheng Xuan;Zhou Hongmei;Zhang Gangcheng(Congenital Heart Disease Center,Wuhan Asian Heart Disease Hospital,Wuhan 430022,China;Graduate School,Medical College of Wuhan University of Science and Technology,Wuhan 430065,China)

机构地区：[1]武汉亚洲心脏病医院先天性心脏病中心,430022 [2]武汉科技大学医学院研究生院,430065

出　　处：《中华实用儿科临床杂志》2021年第21期1657-1659,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：湖北省卫生健康委联合基金项目(WJ2019H237)。

摘　　要：对武汉亚洲心脏病医院先天性心脏病中心2017年9月收治的1例由细丝蛋白A(FLNA)基因突变导致的肺动脉高压(PAH)患儿的临床资料进行回顾性分析。患儿,女,2岁,临床表现为面容特殊、生长发育落后、反复肺部感染、反复心力衰竭、先天性心脏病、PAH。基因检测:FLNA突变(exon34:c.5417-1G>A),为新发致病突变。FLNA突变导致的PAH报道较少,本研究新发1例因FLNAc.5417-1G>A复合杂合剪切突变所致的PAH,扩展了FLNA基因的突变谱,同时提示基因检测是排查PAH病因的重要手段之一。The clinical data of a case of pulmonary arterial hypertension(PAH)caused by mutation of filamin A(FLNA)in the congenital heart disease center of Wuhan Asian Heart Hospital in September 2017 were subject to retrospective analysis.A 2-year-old girl had clinical characteristics of special face,backward growth and development,repeated pulmonary infections,repeated heart failure,congenital heart disease,and PAH.Genetic detection:FLNA mutation(exon34:c.5417-1G>A),which was a new pathogenic mutation.There were few reports of PAH caused by FLNA mutations.In this study,a new case of pulmonary hypertension caused by FLNA c.5417-1G>A compound heterozygous shearing mutations was found,which enriched the FLNA mutation spectrum and prompted genetic detection was an important approach to detect the cause of PAH.

关 键 词：肺动脉高压 FLNA突变 儿童 

分 类 号：R725.4[医药卫生—儿科]