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Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
- Source :
-
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2008 Dec; Vol. 23 (12), pp. 4044-8. Date of Electronic Publication: 2008 Jul 02. - Publication Year :
- 2008
-
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.<br />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.<br />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 micromol/L/h (2.5 and 97.5 percentile were 0.0001 and 5.07 micromol/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.<br />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.
- Subjects :
- Adult
Aged
Child
DNA Mutational Analysis
Fabry Disease complications
Fabry Disease enzymology
Fabry Disease genetics
Female
Genetic Testing
Humans
Kidney Failure, Chronic enzymology
Kidney Failure, Chronic etiology
Kidney Failure, Chronic genetics
Male
Mutation, Missense
Pedigree
Young Adult
alpha-Galactosidase genetics
Fabry Disease diagnosis
Kidney Transplantation
Subjects
Details
- Language :
- English
- ISSN :
- 1460-2385
- Volume :
- 23
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
- Publication Type :
- Academic Journal
- Accession number :
- 18596132
- Full Text :
- https://doi.org/10.1093/ndt/gfn370