Anderson-Fabry disease in kidneys from deceased donor

Am J Transplant. 2007 Dec;7(12):2829-33. doi: 10.1111/j.1600-6143.2007.02003.x. Epub 2007 Oct 17.

Abstract

Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disease that leads to progressive intracellular accumulation of globotriaosylceramide in visceral organs and the vascular endothelium. We report two patients with end-stage renal disease who received renal allograft from deceased female donor who died from heart failure. A 62-year-old women received a renal allograft in July 2006. Except for low-range proteinuria, renal function was normal until 6 months after transplantation when serum creatinine increased from 120 to 150 micromol/L. A renal biopsy was performed. Based on the specific pathological finding, AFD in donor was suspected. In order to prove the diagnosis, the other recipient also underwent renal biopsy 3 months later. This was 45-year-old female with stable graft function and nonnephrotic proteinuria. Light microscopic findings included a 'foamy' appearance of affected cells with swelling and vacuolization of podocytes. Electron microscopic finding show mesangial cells and podocytes filled with dense lysosomal granules appearing as myelin figures and 'zebra bodies'. Changes were less intensive than in the biopsy of the first recipient. The donor was 54-year-old Italian women who died on the Adriatic coast after heart attack. This is the first case of AFD found in a kidney allograft from deceased donor.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Fabry Disease / complications
  • Fabry Disease / diagnosis*
  • Fabry Disease / etiology*
  • Female
  • Humans
  • Kidney / pathology
  • Kidney / surgery
  • Kidney Failure, Chronic / surgery
  • Kidney Transplantation / adverse effects*
  • Middle Aged
  • Proteinuria / etiology
  • Tissue Donors*