Abstract |
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.
|
Authors | 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 |
Journal | Transplant international : official journal of the European Society for Organ Transplantation
(Transpl Int)
Vol. 22
Issue 3
Pg. 287-92
(Mar 2009)
ISSN: 0934-0874 [Print] Switzerland |
PMID | 18954370
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
|
Topics |
- Adult
- Austria
(epidemiology)
- Fabry Disease
(diagnosis, epidemiology, genetics)
- Genetic Testing
- Humans
- Kidney Transplantation
- Male
- Middle Aged
- Prevalence
- Renal Insufficiency
(epidemiology, genetics, surgery)
- alpha-Galactosidase
(genetics, metabolism)
|