Unexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function

Ultrastruct Pathol. 2011 Apr;35(2):92-6. doi: 10.3109/01913123.2010.538136.


Fabry disease is an X-linked recessive lysosomal storage disease caused by a deficiency of α-galactosidase A, with characteristic ultrastructural cytoplasmic myelin-like inclusions. Renal lesions are seen in male and variably in heterozygous female patients. One previous report has described Fabry disease involving a renal allograft from a deceased female donor with no history of Fabry disease. The authors describe another case, in which suspicion for Fabry disease was raised ultrastructurally. This serves as a reminder that proteinuria after renal transplantation may be due to donor-derived disease. Fabry disease is probably an underrecognized cause of graft dysfunction. This case provides further justification for ultrastructural examination of renal allograft biopsies.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Adult
  • Biopsy
  • Fabry Disease / complications*
  • Fabry Disease / diagnosis
  • Fabry Disease / pathology
  • Female
  • Graft Rejection / etiology
  • Humans
  • Kidney / surgery
  • Kidney / ultrastructure*
  • Kidney Failure, Chronic / surgery*
  • Kidney Transplantation / adverse effects*
  • Male
  • Proteinuria / etiology
  • Time Factors
  • Transplantation, Homologous
  • Treatment Outcome