Multidisciplinary treatment in the long-term management of Fabry disease / 中华内科杂志
Chinese Journal of Internal Medicine
;
(12): 949-955, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-1007835
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedad de Fabry
/
Alfa-Galactosidasa
/
Terapia de Reemplazo Enzimático
/
Mutación
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Internal Medicine
Año:
2023
Tipo del documento:
Artículo
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