[Enzyme replacement therapy in Fabry's disease]

Nefrologia. 2005;25(3):322-7.
[Article in Spanish]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Biopsy
  • Fabry Disease / diagnosis
  • Fabry Disease / drug therapy*
  • Fabry Disease / enzymology
  • Fabry Disease / genetics
  • Follow-Up Studies
  • Globosides / analysis
  • Humans
  • Kidney / chemistry
  • Kidney / pathology
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / pathology
  • Male
  • Middle Aged
  • Remission Induction
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / therapeutic use*

Substances

  • Globosides
  • globotetraosylceramide
  • alpha-Galactosidase