李卓津, 金玮. 法布雷病心脏受累——强化认识,早诊早治[J]. 罕见病研究, 2023, 2(1): 121-127. DOI: 10.12376/j.issn.2097-0501.2023.01.017
引用本文: 李卓津, 金玮. 法布雷病心脏受累——强化认识,早诊早治[J]. 罕见病研究, 2023, 2(1): 121-127. DOI: 10.12376/j.issn.2097-0501.2023.01.017
LI Zhuojin, JIN Wei. Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment[J]. Journal of Rare Diseases, 2023, 2(1): 121-127. DOI: 10.12376/j.issn.2097-0501.2023.01.017
Citation: LI Zhuojin, JIN Wei. Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment[J]. Journal of Rare Diseases, 2023, 2(1): 121-127. 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

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

  • 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。

     

    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.

     

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