Crescentic glomerulonephritis in a patient with heterozygous Fabry's disease

Nephron. 2002 Oct;92(2):456-8. doi: 10.1159/000063287.


A 58-year-old woman who suffered from a heterozygous Fabry's disease and immune complex crescentic glomerulonephritis (GN) is reviewed. The diagnosis was made on the basis of the pathologic findings and peripheral leukocyte alpha-galactosidase activity. Light microscopy revealed a vacuolization of epithelial cells and electron microscopy showed myelin figures in the cytoplasm of visceral epithelial cells typical of Fabry's disease at the first renal biopsy. During the following 4 months she developed progressive renal failure and a second renal biopsy disclosed the formation of cellular crescents in 7 of 11 glomeruli observed. A rare case of combined Fabry's disease and crescentic glomerulonephritis is discussed.

Publication types

  • Case Reports

MeSH terms

  • Antigen-Antibody Complex / metabolism
  • Fabry Disease / complications*
  • Fabry Disease / genetics
  • Female
  • Glomerulonephritis / complications*
  • Glomerulonephritis / immunology
  • Glomerulonephritis / pathology
  • Heterozygote
  • Humans
  • Kidney / ultrastructure
  • Microscopy, Electron
  • Middle Aged


  • Antigen-Antibody Complex