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

Title
Serum globotriaosylceramide assay as a screening test for Fabry disease in patients with ESRD on maintenance dialysis in Korea
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.
Ewha Authors
최규복김승정
SCOPUS Author ID
최규복scopus; 김승정scopus
Issue Date
2010
Journal Title
Korean Journal of Internal Medicine
ISSN
1226-3303JCR Link
Citation
vol. 25, no. 4, pp. 415 - 421
Indexed
SCIE; SCOPUS; KCI scopus
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.
DOI
10.3904/kjim.2010.25.4.415
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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