法布雷病的治疗进展

The Treatment Progress of Fabry Disease

  • 摘要: 法布雷病(Fabry disease, FD)是一种罕见的X连锁遗传溶酶体贮积症,由于编码α半乳糖苷酶A(α-galactosidase, α-Gal A) 的GLA基因变异,导致α-Gal A活性下降或缺失,造成其底物于多种器官和组织中贮积,导致多系统损害并危及生命。本文阐述当前FD各种治疗方法的现状,包括特异性治疗(如酶替代疗法、分子伴侣疗法、底物减少疗法、基因治疗等)、对症治疗以及饮食运动治疗等方面,为FD临床治疗提供参考。

     

    Abstract: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by variants in the GLA gene, which encodes α-galactosidase A (α-Gal A). These mutations lead to reduced or absent α-Gal A activity, resulting in the accumulation of its substrates in various organs and tissues. This accumulation causes multi-system damage and can be life-threatening. This article reviews the current landscape of various treatment strategies for FD, including specific therapies (such as enzyme replacement therapy, chaperone therapy, substrate reduction therapy, and gene therapy), symptomatic management, as well as dietary and exercise interventions, aiming to provide a reference for the clinical management of FD.

     

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