TY - JOUR
T1 - Anderson-Fabry disease
T2 - A case-finding study among male kidney transplant recipients in Austria
AU - Kleinert, Julia
AU - Kotanko, Peter
AU - Spada, Marco
AU - Pagliardini, Severo
AU - Paschke, Eduard
AU - Paul, Karl
AU - Voigtländer, Till
AU - Wallner, Manfred
AU - Kramar, Reinhard
AU - Stummvoll, Hans Krister
AU - Schwarz, Christoph
AU - Horn, Sabine
AU - Holzer, Herwig
AU - Födinger, Manuela
AU - Sunder-Plassmann, Gere
PY - 2009/3
Y1 - 2009/3
N2 - 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.
AB - 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.
KW - Alfa-galactosidase A
KW - End-stage renal disease
KW - Epidemiology
KW - Fabry disease
KW - GLA
KW - Kidney transplantation
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UR - http://www.scopus.com/inward/citedby.url?scp=59249084843&partnerID=8YFLogxK
U2 - 10.1111/j.1432-2277.2008.00791.x
DO - 10.1111/j.1432-2277.2008.00791.x
M3 - Article
C2 - 18954370
AN - SCOPUS:59249084843
SN - 0934-0874
VL - 22
SP - 287
EP - 292
JO - Transplant International
JF - Transplant International
IS - 3
ER -