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 journalArticle

23 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)287-292
Number of pages6
JournalTransplant International
Volume22
Issue number3
DOIs
Publication statusPublished - Mar 2009

Fingerprint

Fabry Disease
Austria
alpha-Galactosidase
Kidney
Genetic Testing
Rare Diseases
Kidney Transplantation
Transplant Recipients
Dialysis
Leukocytes
Fluorescence
Mutation
Population
Genes

Keywords

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

ASJC Scopus subject areas

  • Transplantation

Cite this

Kleinert, J., Kotanko, P., Spada, M., Pagliardini, S., Paschke, E., Paul, K., ... Sunder-Plassmann, G. (2009). Anderson-Fabry disease: A case-finding study among male kidney transplant recipients in Austria. Transplant International, 22(3), 287-292. https://doi.org/10.1111/j.1432-2277.2008.00791.x

Anderson-Fabry disease : A case-finding study among male kidney transplant recipients in Austria. / Kleinert, Julia; Kotanko, Peter; Spada, Marco; Pagliardini, Severo; Paschke, Eduard; Paul, Karl; Voigtländer, Till; Wallner, Manfred; Kramar, Reinhard; Stummvoll, Hans Krister; Schwarz, Christoph; Horn, Sabine; Holzer, Herwig; Födinger, Manuela; Sunder-Plassmann, Gere.

In: Transplant International, Vol. 22, No. 3, 03.2009, p. 287-292.

Research output: Contribution to journalArticle

Kleinert, J, Kotanko, P, Spada, M, Pagliardini, S, Paschke, E, Paul, K, Voigtländer, T, Wallner, M, Kramar, R, Stummvoll, HK, Schwarz, C, Horn, S, Holzer, H, Födinger, M & Sunder-Plassmann, G 2009, 'Anderson-Fabry disease: A case-finding study among male kidney transplant recipients in Austria', Transplant International, vol. 22, no. 3, pp. 287-292. https://doi.org/10.1111/j.1432-2277.2008.00791.x
Kleinert, Julia ; Kotanko, Peter ; Spada, Marco ; Pagliardini, Severo ; Paschke, Eduard ; Paul, Karl ; Voigtländer, Till ; Wallner, Manfred ; Kramar, Reinhard ; Stummvoll, Hans Krister ; Schwarz, Christoph ; Horn, Sabine ; Holzer, Herwig ; Födinger, Manuela ; Sunder-Plassmann, Gere. / Anderson-Fabry disease : A case-finding study among male kidney transplant recipients in Austria. In: Transplant International. 2009 ; Vol. 22, No. 3. pp. 287-292.
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