Multidisciplinary treatment in the long-term management of Fabry disease.
10.3760/cma.j.cn112138-20230218-00095
- Collective Name:Chinese National Expert Collaborative Group of Fabry Disease;China Medical Education Association Clinical Nephrology Committe
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Fabry Disease/drug therapy*;
alpha-Galactosidase/therapeutic use*;
Mutation;
Enzyme Replacement Therapy
- From:
Chinese Journal of Internal Medicine
2023;62(8):949-955
- CountryChina
- Language:Chinese
-
Abstract:
Fabry disease is a rare X-linked hereditary condition caused by mutations in the α-galactosidase A (GLA) gene, resulting in decreased α-GAL A enzyme activity. The clinical manifestations of Fabry disease are diverse, which leads to delays in diagnosis and treatment, thereby increasing the disease burden for patients and their families. Given its characteristics, multidisciplinary treatment (MDT) is critical for the long-term management of Fabry disease, and should include nephrology departments, cardiovascular departments, neurology departments, and pediatric department, among others. This study focuses on early screening for Fabry disease, the indication for initiating enzyme replacement therapy, pre-treatment evaluation, and monitoring to provide practical guidance for Chinese clinicians.
