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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 disorder. 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 progress of echocardiographic characters of cardiac lesions in FD, which can help in the early detection of cardiac involvement. Early comprehensive treatment based on enzyme replacement therapy(ERT) may delay disease progression and improve patient survival.
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Key words:
- Fabry disease /
- cardiac involvement /
- echocardiography /
- cardiomyopathy
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表 1 FD心肌病与室壁肥厚心脏病超声心动图鉴别
Table 1. Differences of echocardiographic characters between FD and other ventricular hypertrophy heart diseases
疾病 二维超声心动图 组织多普勒成像 二维斑点追踪技术 三维超声心动图 FD心肌病 对称向心性左心室肥厚，双房扩大 TDI应变及应变率降低，Tei指数增高 基底后外侧壁纵向应变降低，GLS降低 高血压性心肌病 室间隔和左室壁对称性肥厚 e’/a’降低，E/A降低，二尖瓣环Tei指数增高 基底室间隔处收缩期峰值应变降低，GLS逐渐降低 左室壁不同步收缩 肥厚型心肌病 左室壁非对称性肥厚 e’/a’降低，E/A降低 纵向应变降低 左室壁不同步收缩 心脏淀粉样变 向心性左心室肥厚，左室体积逐渐减少 心尖保留的GLS降低 
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