Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2005-01-01

[Enzyme replacement therapy in Fabry's disease].

L Alvarez, C del Pozo, M Trigueros, L Sánchez, M D Albero, R López-Menchero, E Ortega

Index: Nefrologia 25(3) , 322-7, (2005)

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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.