Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria
- Resource Type
- Academic Journal
- Authors
- Kleinert, Julia; Kotanko, Peter; Spada, Marco; Pagliardini, Severo; Paschke, Eduard; Paul, Karl; Voigtländer, Till; Wallner, Manfred; Kramar, Reinhard; Stummvoll, Hans-Krister; Horn, Sabine; Holzer, Herwig; Födinger, Manuela; Sunder-Plassmann, Gere
- Source
- Transplant International. Mar 01, 2009 22(3):287-292
- Subject
- Language
- English
- ISSN
- 0934-0874
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.