法布雷病相关心脏损害的超声心动图表现
Echocardiographic characters of cardiac involvement associated with Fabry disease
贺文凤 1梁士楚 1黄鹤1
作者信息
- 1. 四川大学华西医院心脏内科(成都,610041)
- 折叠
摘要
法布雷病(Fabry disease,FD)是一种罕见的X连锁遗传性疾病,表现为溶酶体贮积障碍.FD病变主要累及心肌细胞、血管内皮细胞、平滑肌细胞、肾脏细胞和神经元细胞.与正常人群相比,FD男性患者寿命平均减少15～20年,女性患者寿命平均减少6～10年,心血管系统并发症是男性(34％)和女性(57％)患者的主要死亡原因.早期发现FD心脏损害进而采取临床干预尤为重要.本文综述了 FD心脏损害的超声心动图表现研究进展,旨在早期发现FD相关心脏损害,尽早启动以酶替代治疗为主的综合治疗,延缓疾病进展,提高生存率.
Abstract
Fabry disease(FD)is a rare X-linked hereditary disease characterized by lysosomal storage disor-der.FD lesions mainly involved myocardial cells,vascular endothelial cells,smooth muscle cells,renal cells,and neuronal cells.Compared with the normal population,the average life expectancy of FD male patients is reduced by 15-20 years,and the average life expectancy of female patients is reduced by 6-10 years.Cardiovascular system complications are the main cause of death in male(34％)and female(57％)patients.Early detection of cardiac involvement associated with FD and clinical intervention are particularly important.This article reviews the pro-gress of echocardiographic characters of cardiac lesions in FD,which can help in the early detection of cardiac in-volvement.Early comprehensive treatment based on enzyme replacement therapy(ERT)may delay disease pro-gression and improve patient survival.
关键词
法布雷病/心脏损害/超声心动图/心肌病Key words
Fabry disease/cardiac involvement/echocardiography/cardiomyopathy引用本文复制引用
出版年
2024
NETL
NSTL
万方数据