Journal Article

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

Gert De Schoenmakere, Bruce Poppe, Birgitte Wuyts, Kathleen Claes, David Cassiman, Bart Maes, Dierik Verbeelen, Raymond Vanholder, Dirk R. Kuypers, Norbert Lameire, Anne De Paepe and Wim Terryn

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 23, issue 12, pages 4044-4048
Published in print December 2008 | ISSN: 0931-0509
Published online July 2008 | e-ISSN: 1460-2385 | DOI:
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients

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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

Journal Article.  3543 words.  Illustrated.

Subjects: Nephrology

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