Korean J Intern Med.
2010 Dec;25(4):415-421. 10.3904/kjim.2010.25.4.415.
Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea
- Affiliations
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- 1Division of Nephrology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea. yjkwon@korea.ac.kr
- 2Division of Nephrology, Department of Internal Medicine, Wonkwang University College of Medicine, Gunpo, Korea.
- 3Division of Pharmacy, Duksung Women's University, Seoul, Korea.
- 4Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, Seoul, Korea.
- 5Department of Pediatrics, Ulsan University College of Medicine, Seoul, Korea.
- 6Western Dialysis Physician Association (WDPA), Seoul, Korea.
- 7Department of Internal Medicine, Hallym University College of Medicine, Seoul, Korea.
- 8Department of Internal Medicine, Ewha Woman's University School of Medicine, Seoul, Korea.
- 9Department of Internal Medicine, Chung-Ang University College of Medicine, Seoul, Korea.
- KMID: 964723
- DOI: http://doi.org/10.3904/kjim.2010.25.4.415
Abstract
- BACKGROUND/AIMS
Fabry disease is an X-linked recessive and progressive disease caused by alpha-galactosidase A (alpha-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening.
METHODS
A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were measured by tandem mass spectrometry. Additionally, we studied the association between increased GL3 levels and cardiovascular disease, cerebrovascular disease, or left ventricular hypertrophy.
RESULTS
Twenty-nine patients had elevated serum GL3 levels. The alpha-GaL A activity was determined for the 26 patients with high GL3 levels. The mean alpha-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased alpha-GaL A activity. Among the group with high GL3 levels, 15 women had a alpha-GaL A genetics analysis. No point mutations were discovered among the women with high GL3 levels. No correlation was observed between serum GL3 levels and alpha-GaL A activity; the Pearson correlation coefficient was 0.01352 (p = 0.9478). No significant correlation was observed between increased GL3 levels and the frequency of cardiovascular disease or cerebrovascular disease.
CONCLUSIONS
Fabry disease is very rare disease in patients with end-stage renal disease. Serum GL3 measurements as a screening method for Fabry disease showed a high false-positive rate. Thus, serum GL3 levels determined by tandem mass spectrometry may not be useful as a screening method for Fabry disease in patients with end stage renal disease.
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