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Serum globotriaosylceramide assay as a screening test for Fabry disease in patients with ESRD on maintenance dialysis in Koreaopen access

Authors
Kim J.-Y.Hyun Y.-Y.Lee J.-E.Yoon H.-R.Kim G.-H.Yoo H.-W.Cho S.-T.Chun N.-W.Jeoung B.-C.Kim H.-J.Kim K.-W.Kim S.-N.Kim Y.-A.Lee H.-A.Lee J.-Y.Lee Y.-C.Lim H.-K.Oh K.-S.Son S.-H.Yu B.-H.Wee K.-S.Lee E.-J.Lee Y.-K.Noh J.-W.Kim S.-J.Choi K.-B.Yu S.-H.Pyo H.-J.Kwon Y.-J.
Issue Date
2010
Keywords
End-stage renal disease; Fabry disease; Globotriaosylceramide
Citation
Korean Journal of Internal Medicine, v.25, no.4, pp.415 - 421
Indexed
SCOPUS
KCI
Journal Title
Korean Journal of Internal Medicine
Volume
25
Number
4
Start Page
415
End Page
421
URI
https://scholarworks.korea.ac.kr/kumedicine/handle/2020.sw.kumedicine/15429
DOI
10.3904/kjim.2010.25.4.415
ISSN
1226-3303
Abstract
Background/Aims: Fabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-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 α-GaL A activity was determined for the 26 patients with high GL3 levels. The mean α-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased α-GaL A activity. Among the group with high GL3 levels, 15 women had a α- 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 α-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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Kwon, Young Joo
구로병원 (Department of Nephrology and Hypertension, Guro Hospital)
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