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

@article{Schoenmakere2008TwotierAF,
  title={Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.},
  author={Gert De Schoenmakere and Bruce Poppe and Birgitte Wuyts and Kathleen Bm Claes and David M Cassiman and Bart Maes and Dierik L Verbeelen and Raymond Camille Vanholder and Dirk Kuypers and Norbert R Lameire and Anne De Paepe and Wim Terryn},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  year={2008},
  volume={23 12},
  pages={4044-8}
}
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… CONTINUE READING