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

Julia Kleinert, Peter Kotanko, Marco Spada, Severo Pagliardini, Eduard Paschke, Karl Paul, Till Voigtländer, Manfred Wallner, Reinhard Kramar, Hans Krister Stummvoll, Christoph Schwarz, Sabine Horn, Herwig Holzer, Manuela Födinger, Gere Sunder-Plassmann

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)287-292
Number of pages6
JournalTransplant International
Issue number3
Publication statusPublished - Mar 2009


  • Alfa-galactosidase A
  • End-stage renal disease
  • Epidemiology
  • Fabry disease
  • GLA
  • Kidney transplantation

ASJC Scopus subject areas

  • Transplantation


Dive into the research topics of 'Anderson-Fabry disease: A case-finding study among male kidney transplant recipients in Austria'. Together they form a unique fingerprint.

Cite this