Selected Publication:

SHR Neuro Cancer Cardio Lipid Metab Microb

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.
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.
Transpl Int. 2009; 22(3):287-292 Doi: 10.1111/j.1432-2277.2008.00791.x (- Case Report) [OPEN ACCESS]
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Co-authors Med Uni Graz

Holzer Herwig

Horn Sabine

Paschke Eduard

Paul Karl

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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.

Find related publications in this database (using NLM MeSH Indexing)

Adult -

Adult - 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

Find related publications in this database (Keywords)

alfa-galactosidase A

epidemiology

end-stage renal disease

Fabry disease

GLA

kidney transplantation

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