1.Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea.
Jeong Yup KIM ; Young Youl HYUN ; Ji Eun LEE ; Hye Ran YOON ; Gu Hwan KIM ; Han Wook YOO ; Seong Tae CHO ; No Won CHUN ; Byoung Chunn JEOUNG ; Hwa Jung KIM ; Keong Wook KIM ; Seong Nam KIM ; Yung A KIM ; Hyun Ah LEE ; Jong Young LEE ; Yung Chun LEE ; Hun Kwan LIM ; Keong Sik OH ; Seong Hwan SON ; Beong Hee YU ; Kyeong So WEE ; Eun Jong LEE ; Young Ki LEE ; Jung Woo NOH ; Seung Jung KIM ; Kyu Bok CHOI ; Suk Hee YU ; Heui Jung PYO ; Young Joo KWON
The Korean Journal of Internal Medicine 2010;25(4):415-421
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.
Adult
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Aged
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Fabry Disease/blood/*diagnosis
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Female
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Humans
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Kidney Failure, Chronic/blood/*therapy
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Male
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Middle Aged
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*Renal Dialysis
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Trihexosylceramides/*blood
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alpha-Galactosidase/genetics/metabolism
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