Progress in Fabry disease
10.3760/cma.j.issn.1673-4408.2010.03.020
- VernacularTitle:Fabry病研究进展
- Author:
Minshu ZOU
;
Jian YU
- Publication Type:Journal Article
- Keywords:
Fabry disease;
Nephropathy;
Enzyme replacement therapy
- From:
International Journal of Pediatrics
2010;37(3):283-286
- CountryChina
- Language:Chinese
-
Abstract:
Fabry disease is an inherited metabolic disease, resulting from a deficiency of the enzyme a-galactosidase A activity. Principal clinical manifestation of Fabry disease was limb pain episodes, angioceratoma, and progressive damage of heart,brain, kidney. Although Fabry disease cannot be cured at present,early diagnosis and enzyme replacement therapy can change the prognosis completely.
