Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria

Transpl Int. 2009 Mar;22(3):287-92. doi: 10.1111/j.1432-2277.2008.00791.x. Epub 2008 Oct 24.


The diagnosis of Anderson-Fabry disease is often delayed or even missed. As severe renal manifestations are a hallmark of alfa-galactosidase A (AGAL) deficiency, we tested the hypothesis that Anderson-Fabry disease is under-recognized among male kidney transplant recipients. This nation-wide study in Austria enrolled 1306 patients (ca 65% of all kidney transplanted males) from 30 kidney centers. AGAL activity was determined from filter paper dried blood spots by a fluorescence assay. A positive screening test was defined by an AGAL activity below 1.5 nmol/h/ml. In patients with a positive blood spot-screening test, AGAL activity was re-examined in peripheral blood leukocytes. Genetic testing for mutations in the GLA gene was performed by sequencing to confirm the diagnosis of Anderson-Fabry disease. Two previously not recognized cases with Anderson-Fabry disease were identified. Our study is the first showing that a diagnosis of Anderson-Fabry disease can be missed even in patients who undergo kidney transplantation. Case-finding strategies may be considered a useful tool for diagnosis of this rare disease that may be somewhat more prevalent among kidney transplant recipients compared with dialysis populations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Austria / epidemiology
  • Fabry Disease / diagnosis*
  • Fabry Disease / epidemiology
  • Fabry Disease / genetics
  • Genetic Testing
  • Humans
  • Kidney Transplantation*
  • Male
  • Middle Aged
  • Prevalence
  • Renal Insufficiency / epidemiology
  • Renal Insufficiency / genetics
  • Renal Insufficiency / surgery*
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / metabolism


  • alpha-Galactosidase