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

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.

• Authors: 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
• Journal: The Korean journal of internal medicine (Korean J Intern Med) Vol. 25 Issue 4 Pg. 415-21 (Dec 2010) ISSN: 1226-3303 [Print] Korea (South)
• PMID: 21179280 (Publication Type: Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• Trihexosylceramides
• globotriaosylceramide
• alpha-Galactosidase

Topics

• Adult
• Aged
• Fabry Disease (blood, diagnosis)
• Female
• Humans
• Kidney Failure, Chronic (blood, therapy)
• Male
• Middle Aged
• Renal Dialysis
• Trihexosylceramides (blood)
• alpha-Galactosidase (genetics, metabolism)