Fabry disease: recent advances in precision treatment
10.3760/cma.j.cn441217-20220831-00850
- VernacularTitle:法布里病精准治疗的研究进展
- Author:
Yan OUYANG
1
;
Hong REN
;
Nan CHEN
Author Information
1. 上海交通大学医学院附属瑞金医院肾内科 上海交通大学医学院肾脏病研究所，上海200025
- Keywords:
Fabry disease;
Precision medicine;
Therapeutics
- From:
Chinese Journal of Nephrology
2023;39(4):298-304
- CountryChina
- Language:Chinese
-
Abstract:
Fabry disease is a X-linked inherited lysosomal storage disease. The pathogenesis is that mutations in the GLA gene lead to the decrease or lack of α-galactosidase A activity, followed by the accumulation of substrate and its intermediate metabolites in cells and tissues, eventually leading to multiple organ injury. The rise of specific treatment and gene technology pushes the application of precision medicine in patients with Fabry disease. As a milestone in the specific treatment of Fabry disease, enzyme replacement therapy can delay disease progression and improve quality of life, but not all carriers with GLA mutation need intervention immediately, and indeed individualized treatment is required. However, enzyme-enhanced therapy is only suitable for "amenable mutations" and has clinical application limitation. Therefore, new treatments such as substrate reduction therapy, second-generation enzyme replacement therapy, and gene therapy are already undergoing clinical trials, expected to bring new gospel to Fabry disease patients. This article will review development of precision treatment on Fabry disease, providing the basis of individualized treatment for the drug selection and prevention of side effect. The expectation is to drive future therapeutic strategies toward precision-based treatment.
