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

(2008) NEPHROLOGY DIALYSIS TRANSPLANTATION. 23(12). p.4044-4048
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Organization
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 mu mol/L/h (2.5 and 97.5 percentile were 0.0001 and 5.07 mu mol/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
PREVALENCE, BLOOD SPOTS, ONSET HYPERTROPHIC CARDIOMYOPATHY, ANDERSON-FABRY-DISEASE, ENZYMATIC DIAGNOSIS, LYSOSOMAL STORAGE DISORDERS, REPLACEMENT THERAPY, A DEFICIENCY, NATURAL-HISTORY, MANIFESTATIONS

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Citation

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Chicago
De Schoenmakere, Gert, Bruce Poppe, Birgitte Wuyts, Kathleen Claes, David Cassiman, Bart Maes, Dierik Verbeelen, et al. 2008. “Two-tier Approach for the Detection of Alpha-galactosidase A Deficiency in Kidney Transplant Recipients.” Nephrology Dialysis Transplantation 23 (12): 4044–4048.
APA
De Schoenmakere, G., Poppe, B., Wuyts, B., Claes, K., Cassiman, D., Maes, B., Verbeelen, D., et al. (2008). Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. NEPHROLOGY DIALYSIS TRANSPLANTATION, 23(12), 4044–4048.
Vancouver
1.
De Schoenmakere G, Poppe B, Wuyts B, Claes K, Cassiman D, Maes B, et al. Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. NEPHROLOGY DIALYSIS TRANSPLANTATION. England: OXFORD UNIV PRESS, GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND; 2008;23(12):4044–8.
MLA
De Schoenmakere, Gert, Bruce Poppe, Birgitte Wuyts, et al. “Two-tier Approach for the Detection of Alpha-galactosidase A Deficiency in Kidney Transplant Recipients.” NEPHROLOGY DIALYSIS TRANSPLANTATION 23.12 (2008): 4044–4048. Print.
@article{518920,
  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 mu mol/L/h (2.5 and 97.5 percentile were 0.0001 and 5.07 mu mol/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.},
  author       = {De Schoenmakere, Gert and Poppe, Bruce and Wuyts, Birgitte and Claes, Kathleen and Cassiman, David and Maes, Bart and Verbeelen, Dierik and Vanholder, Raymond and Kuypers, Dirk R. and Lameire, Norbert and De Paepe, Anne and Terryn, Wim},
  issn         = {0931-0509},
  journal      = {NEPHROLOGY DIALYSIS TRANSPLANTATION},
  keywords     = {PREVALENCE,BLOOD SPOTS,ONSET HYPERTROPHIC CARDIOMYOPATHY,ANDERSON-FABRY-DISEASE,ENZYMATIC DIAGNOSIS,LYSOSOMAL STORAGE DISORDERS,REPLACEMENT THERAPY,A DEFICIENCY,NATURAL-HISTORY,MANIFESTATIONS},
  language     = {eng},
  number       = {12},
  pages        = {4044--4048},
  publisher    = {OXFORD UNIV PRESS, GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND},
  title        = {Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients},
  url          = {http://dx.doi.org/10.1093/ndt/gfn370},
  volume       = {23},
  year         = {2008},
}

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