[Enzyme replacement therapy in Fabry's disease]. / Terapia de sustitución enzimática en la enfermedad de Fabry: evaluación clínico-histológica tras 18 meses de terapia.
Nefrologia
; 25(3): 322-7, 2005.
Article
en Es
| MEDLINE
| ID: mdl-16053014
ABSTRACT
We report a 56-year-old man with history of chronic renal failure, who was diagnosed to have Fabry's disease after performing a percutaneous kidney biopsy. The diagnosis was confirmed by the deficient level of activity of alpha-galactosidase A and by the identification of the mutation. A enzime replacement therapy with alpha-galactosidase A was administered. After 18 months of treatment, a second kidney biopsy was performed showing renal deposits of globotriaosylceramide (we did not evaluate the percentage of histologic clearance of the deposits). Six months after the end of the therapy, a reduction in the impairment of renal function is observed, and the classic manifestations of the disease are absent.
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Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Fabry
/
Alfa-Galactosidasa
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
/
Middle aged
Idioma:
Es
Año:
2005
Tipo del documento:
Article