Nephrol Dial Transplant (2003) 18: 1581-1584
© 2003 European Renal Association-European Dialysis and Transplant Association
-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease
1 Department of Internal Medicine, Clinical Haematology, 2 Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, Amsterdam, 3 Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, 4 Department of Biochemistry, Academic Medical Center and 5 Dianet Dialysis Center, Academic Medical Center, Amsterdam, The Netherlands
Correspondence and offprint requests to: G. E. Linthorst, Academic Medical Center, Department of Internal Medicine, Clinical Haematology, F4-224, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Email: g.e.linthorst{at}amc.uva.nl
Introduction. Fabry disease or 
-galactosidase A (-Gal A) deficiency is an X-linked lysosomal storage disorder that often leads to renal insufficiency in males and occasionally in females. The disease is rare, but its prevalence may be underestimated due to its variable clinical picture. Enzyme supplementation therapy with rHu-Gal A is currently available. Limited experience has so far shown that therapy may at best stabilize renal function. Despite these preliminary findings, much effort is being put into screening high-risk groups for undiagnosed -Gal A deficiency. We studied the prevalence of -Gal A deficiency in a Dutch dialysis cohort to establish possible underdiagnosis. We discuss the benefits of screening for Fabry disease.
Methods. Activity of -Gal A in whole blood was measured in a group of 508 male Dutch dialysis patients.
Results. Of the 508 patients studied only one patient, already known with Fabry disease, had a -Gal A deficiency, a prevalence of 0.22% (95 CI 0–1.1%).
Conclusions. No undiagnosed Fabry patients were found, indicating that in our studied cohort there is no large-scale underestimation of its prevalence. Even though screening of dialysis patients for Fabry disease might identify patients who remain otherwise unrecognized, screening of high-risk populations for -Gal A deficiency should be carried out with caution since long-term efficacy of treatment is currently unknown.
Keywords: Fabry disease; -galactosidase A; lysosomal storage disorder; prevalence; screening
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  B. Oqvist, B. M. Brenner, J. P. Oliveira, A. Ortiz, R. Schaefer, E. Svarstad, C. Wanner, K. Zhang, and D. G. Warnock Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations Nephrol. Dial. Transplant., June 1, 2009; 24(6): 1736 - 1743. [Full Text] [PDF]
|
|
|
|
|
|
G. D. Schoenmakere, B. Poppe, B. Wuyts, K. Claes, D. Cassiman, B. Maes, D. Verbeelen, R. Vanholder, D. R. Kuypers, N. Lameire, et al. Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients Nephrol. Dial. Transplant., December 1, 2008; 23(12): 4044 - 4048. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Terryn, B. Poppe, B. Wuyts, K. Claes, B. Maes, D. Verbeelen, R. Vanholder, K. De Boeck, N. Lameire, A. De Paepe, et al. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population Nephrol. Dial. Transplant., January 1, 2008; 23(1): 294 - 300. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Andrade, P. J. Waters, R. S. Singh, A. Levin, B.-C. Toh, H. D. Vallance, and S. Sirrs Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma {alpha}-Galactosidase Assay as a Screening Test Clin. J. Am. Soc. Nephrol., January 1, 2008; 3(1): 139 - 145. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Merta, J. Reiterova, J. Ledvinova, H. Poupetova, R. Dobrovolny, R. Rysava, D. Maixnerova, J. Bultas, J. Motan, J. Slivkova, et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population Nephrol. Dial. Transplant., January 1, 2007; 22(1): 179 - 186. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Fuller, P. C. Sharp, T. Rozaklis, P. D. Whitfield, D. Blacklock, J. J. Hopwood, and P. J. Meikle Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes Clin. Chem., April 1, 2005; 51(4): 688 - 694. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Fuller, M. Lovejoy, D. A. Brooks, M. L. Harkin, J. J. Hopwood, and P. J. Meikle Immunoquantification of {alpha}-Galactosidase: Evaluation for the Diagnosis of Fabry Disease Clin. Chem., November 1, 2004; 50(11): 1979 - 1985. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Kotanko, R. Kramar, D. Devrnja, E. Paschke, T. Voigtlander, M. Auinger, K. Demmelbauer, M. Lorenz, A.-C. Hauser, H.-J. Kofler, et al. Results of a Nationwide Screening for Anderson-Fabry Disease among Dialysis Patients J. Am. Soc. Nephrol., May 1, 2004; 15(5): 1323 - 1329. [Abstract] [Full Text] [PDF]
|
|