Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy

Clin Nephrol. 2008 Jun;69(6):445-9. doi: 10.5414/cnp69445.

Abstract

Fabry disease is an X-linked recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal enzyme, alpha-galactosidase A. Enzyme replacement therapy (ERT) for this disorder has been available in Europe since 2001. However, its effect on advanced renal failure remains controversial. We report the case of a patient whose decline in renal function was reduced by the administration of ERT (agalsidase-alpha). This reduction was more pronounced after doubling the dose of the enzyme. The rate of deterioration of eGFR went from 6.3 ml/min/year prior to the start of ERT (0.2 mg/kg) to 2 ml/min/year (0.4 mg/kg). To our knowledge, this is the first reported case of a patient with moderately impaired renal function treated with high doses of ERT and follow-up of 6 years. The data shown here suggest that ERT may have a very positive impact on renal function even in advanced stages. The role of proteinuria and its control seem to have a clear responsibility for this favorable outcome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Disease Progression
  • Enzyme Therapy*
  • Fabry Disease / complications
  • Fabry Disease / drug therapy*
  • Humans
  • Isoenzymes / therapeutic use
  • Kidney / pathology
  • Kidney Diseases / drug therapy*
  • Kidney Diseases / etiology
  • Kidney Diseases / pathology
  • Male
  • alpha-Galactosidase / therapeutic use*

Substances

  • Isoenzymes
  • alpha-Galactosidase