Enzyme replacement therapy and renal function in 201 patients with Fabry disease

Clin Nephrol. 2006 Aug;66(2):77-84.


Aim: Fabry disease is a rare lysosomal storage disorder caused by deficient activity of alpha-galactosidase A, resulting in progressive cellular accumulation of glycolipids, which may ultimately result in endstage renal disease. We examined the effects of enzyme replacement therapy (ERT) with Agalsidase-alpha on renal function using data from a large international database, the Fabry Outcome Survey (FOS).

Methods: This analysis was based on 1,040 serum creatinine measurements in 201 patients with Fabry disease, aged 20 - 60 years, with serum creatinine concentrations of less than 2 mg/dl and duration of ERT of up to 4.7 years. Both pretreatment and treatment data were used to examine independent predictors of changes in serum creatinine. In a second approach longitudinal serum creatinine measurements from 1 year before treatment, at baseline and 1 and 2 years after the start of treatment were analyzed in 20 patients with chronic kidney disease (CKD) Stage 2 and 3.

Results: We found an independent negative association between serum creatinine and time on Agalsidase-alpha treatment (p < 0.05). Renal function declined significantly (p < 0.05) in the year before treatment. After 1 year of treatment, however, the decline in estimated glomerular filtration rate had been halted, and renal function was preserved for up to 2 years.

Conclusions: In conclusion, ERT with Agalsidase-alpha is associated with decrease of serum creatinine and may prevent the deterioration of renal function in patients with Fabry disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cohort Studies
  • Creatinine / blood
  • Fabry Disease / complications
  • Fabry Disease / drug therapy*
  • Fabry Disease / physiopathology*
  • Female
  • Humans
  • Isoenzymes / therapeutic use
  • Kidney / drug effects*
  • Kidney / physiopathology*
  • Kidney Failure, Chronic / drug therapy
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / physiopathology
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Multivariate Analysis
  • alpha-Galactosidase / therapeutic use*


  • Isoenzymes
  • Creatinine
  • alpha-Galactosidase