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NDT Advance Access originally published online on July 2, 2008
Nephrology Dialysis Transplantation 2008 23(12):4044-4048; doi:10.1093/ndt/gfn370
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients

Gert De Schoenmakere1,2,*, Bruce Poppe3,*, Birgitte Wuyts4, Kathleen Claes3, David Cassiman5, Bart Maes6,2, Dierik Verbeelen6,7, Raymond Vanholder1, Dirk R. Kuypers8, Norbert Lameire1, Anne De Paepe3 and Wim Terryn1,9*

1 Department of Nephrology, Ghent University Hospital, Ghent 2 Department of Nephrology and Internal Medicine, Heilig Hart Hospital, Roeselare 3 Center for Medical Genetics, Ghent University Hospital, Ghent 4 Department of Clinical Biology, Ghent University Hospital, Ghent 5 Metabolic Center, University Hospitals Leuven, University of Leuven 6 Representative of NBVN (Nederlandstalige Belgische Vereniging voor Nefrologie) 7 Department of Nephrology, Universitair ziekenhuis Brussel, Brussels 8 Department of Nephrology and Renal Transplantation, University Hospital Gasthuisberg, Leuven 9 Department of Nephrology and Internal Medicine, Regional Hospital Jan Yperman, Ypres, Belgium

Correspondence and offprint requests to: Gert De Schoenmakere, Department of Nephrology and Internal Medicine, Heilig Hartziekenhuis Roeselare, B-8800 Roeselare, Belgium. Tel: +32-51-23-74-95; Fax: +32-51-23-74-95; E-mail: gdeschoenmakere{at}hhr.be



  Abstract

Background. Anderson–Fabry disease (AFD) is an X-linked condition originating from a deficiency in alpha-galactosidase, a lysosomal enzyme. Multi-organ involvement ensues in early adulthood and vital organs are affected: the kidneys, brain, heart. Several reports however suggest that AFD is underdiagnosed.

Methods. We screened a kidney transplant population using a two-tier approach. The first tier was the determination of alpha-galactosidase A (AGALA) activity using a dried blood spot on filter paper (DBFP); in the second tier, patients with the lowest alpha-galactosidase levels were further subjected to mutation analysis of the GLA gene.

Results. From the database of 2328 patients, 1233 subjects met the inclusion criteria. Finally, after informed consent, 673 patients were screened (54.5%—395 women and 278 men). DBFP analysis resulted in a mean AGALA of 2.63 ± 2.48 µmol/L/h (2.5 and 97.5 percentile were 0.0001 and 5.07 µmol/L/h, respectively). Eleven patients were subjected to further genetic analysis. In a male patient a pathogenic missense mutation p.Ala143Thr (c.427A>G) was identified.

Conclusions. Our results show that the proposed approach can detect AFD patients in a until now seldomly screened high-risk group: kidney transplant patients. We conclude that screening for AFD in high-risk populations is a cost-effective, technically feasible and clinically valuable objective.

Keywords: alpha-galactosidase; Anderson–Fabry disease; screening; transplantation

* The authors contributed equally to the study.

Received for publication: 3. 2.08
Accepted in revised form: 10. 6.08


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