法布雷病心脏受累——强化认识，早诊早治

李卓津; 金玮

doi:10.12376/j.issn.2097-0501.2023.01.017

法布雷病心脏受累——强化认识，早诊早治

doi: 10.12376/j.issn.2097-0501.2023.01.017

李卓津,
金玮^,

上海交通大学医学院附属瑞金医院心内科，上海 200025

基金项目:

国家自然科学基金项目 81970337

国家自然科学基金项目 82270404

上海市学术/技术带头人计划项目 21XD1402100

详细信息

通信作者:
金玮，E-mail：jinwei@shsmu.edu.cn

中图分类号: R54
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- 被引次数: 0
出版历程
- 收稿日期: 2023-01-02
- 录用日期: 2023-01-08
- 网络出版日期: 2023-03-07

Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment

LI Zhuojin,
JIN Wei^,

Department of Cardiology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Funding:

National Natural Science Foundation of China 81970337

National Natural Science Foundation of China 82270404

Program of Shanghai Academic/Technology Research Leader 21XD1402100

More Information

Corresponding author: JIN Wei, E-mail: jinwei@shsmu.edu.cn

摘要

摘要: 法布雷病是一种由GLA基因突变导致的X染色体连锁遗传溶酶体贮积症，该基因编码的α半乳糖苷酶A活性受损，造成其代谢底物三己糖酰基鞘脂醇(GL-3)在心脏、肾脏等多脏器贮积。法布雷病心脏受累在临床上主要表现为左心室肥厚(LVH)、心肌纤维化、心力衰竭和心律失常等，是降低患者生活质量、造成患者死亡的首要原因。近年来，酶活性检测和基因检测技术的普及使法布雷病确诊不再困难，心电图、心脏超声、心脏磁共振(CMR)等多种影像手段为临床识别法布雷病心脏受累者提供了重要价值。酶替代疗法(ERT)的应用显著延缓了患者的疾病进程，口服药物分子伴侣治疗、底物减少治疗等亦拓宽了法布雷病特异性治疗的前景。因此，早发现、早诊断、早治疗成为法布雷病心脏受累诊疗的重点和难点。本文将对法布雷病心脏受累的概况、病理生理机制、诊断与分期、治疗进行综述。
- 法布雷病 /
- 心脏受累 /
- 诊断 /
- 治疗
Abstract: Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations of the GLA gene, resulting in the decreased a-galactosidase A activity and the accumulation of its substrate globotriasylceramide (GL-3) in the heart, kidney and other organs. The main clinical manifestations of cardiac involvement in Fabry disease are left ventricular hypertrophy (LVH), myocardial fibrosis, heart failure and arrhythmia, which limit quality of life and represent the most common causes of death. Following the development of enzyme activity and genetics testing, diagnosis of Fabry disease is no longer difficult. The application of enzyme replacement therapy (ERT) has also significantly slow disease progression. Therefore, early diagnosis and treatment have become essential in the management of Fabry disease cardiac involvement. Electrocardiogram, echocardiography and cardiac magnetic resonance(CMR) allow early detection of suspected patients. In addition, with the approval of oral chaperone therapy and substrate reduction therapy, the Fabry disease specific treatment landscape is evolving. This article will review the general features, pathophysiology, diagnosis and treatment of Fabry disease with cardiac involvement.
- Fabry disease /
- cardiac involvement /
- diagnosis /
- treatment
注释:

作者贡献：李卓津、金玮共同参与综述选题、文献检索、分析及论文撰写。

利益冲突：所有作者均声明不存在利益冲突。

HTML全文

图 1 法布雷病心脏受累的诊断流程

LVH：左心室肥厚；HFpEF：射血分数保留的心力衰竭；α-Gal A: α半乳糖苷酶A; lyso-GL-3:脱乙酰基三己糖酰基鞘脂醇；CMR：心脏磁共振；LGE：钆延迟增强

Figure 1. The diagnostic procedure for cardiac involvement in Fabry disease

下载: 全尺寸图片幻灯片

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