Early renal failure in Fabry's disease

Am J Kidney Dis. 1983 May;2(6):651-4. doi: 10.1016/s0272-6386(83)80047-x.


Two young males were observed with renal failure from Fabry's disease. These two patients had progressive decrease of renal function and required hemodialysis at ages 16 and 24. Diagnosis was confirmed by low plasma galactosidase levels and by skin and kidney biopsy. Each has had a successful kidney transplant with good graft function, the 16-year-old patient for five years and the 24-year-old for two years. Although the renal impairment usually does not appear until the fourth or fifth decade of life. Fabry's disease should be considered in the differential diagnosis of renal failure in young males.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Fabry Disease / complications*
  • Fabry Disease / metabolism
  • Fabry Disease / pathology
  • Glycolipids / analysis
  • Humans
  • Kidney Failure, Chronic / etiology*
  • Kidney Failure, Chronic / therapy
  • Kidney Glomerulus / ultrastructure
  • Kidney Transplantation
  • Male
  • Renal Dialysis
  • Skin / ultrastructure
  • Trihexosylceramides / analysis


  • Glycolipids
  • Trihexosylceramides