The Korean journal of internal medicine

  • 제25권4호
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  • Pages.415-421
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  • 2010
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  • 1226-3303(pISSN)
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  • 2005-6648(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
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Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

  • Kim, Jeong-Yup (Division of Nephrology, Department of Internal Medicine, Korea University College of Medicine) ;
  • Hyun, Young-Youl (Division of Nephrology, Department of Internal Medicine, Korea University College of Medicine) ;
  • Lee, Ji-Eun (Division of Nephrology, Department of Internal Medicine, Wonkwang University College of Medicine) ;
  • Yoon, Hye-Ran (Division of Pharmacy, Duksung Women's University) ;
  • Kim, Gu-Hwan (Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center) ;
  • Yoo, Han-Wook (Department of Pediatrics, Ulsan University College of Medicine) ;
  • Cho, Seong-Tae (Western Dialysis Physician Association (WDPA)) ;
  • Chun, No-Won (Western Dialysis Physician Association (WDPA)) ;
  • Jeoung, Byoung-Chunn (Western Dialysis Physician Association (WDPA)) ;
  • Kim, Hwa-Jung (Western Dialysis Physician Association (WDPA)) ;
  • Kim, Keong-Wook (Western Dialysis Physician Association (WDPA)) ;
  • Kim, Seong-Nam (Western Dialysis Physician Association (WDPA)) ;
  • Kim, Yung-A (Western Dialysis Physician Association (WDPA)) ;
  • Lee, Hyun-Ah (Western Dialysis Physician Association (WDPA)) ;
  • Lee, Jong-Young (Western Dialysis Physician Association (WDPA)) ;
  • Lee, Yung-Chun (Western Dialysis Physician Association (WDPA)) ;
  • Lim, Hun-Kwan (Western Dialysis Physician Association (WDPA)) ;
  • Oh, Keong-Sik (Western Dialysis Physician Association (WDPA)) ;
  • Son, Seong-Hwan (Western Dialysis Physician Association (WDPA))
  • 투고 : 2009.12.10
  • 심사 : 2010.06.22
  • 발행 : 2010.12.01
⟨ 이전 논문 다음 논문 ⟩

초록

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.

키워드

참고문헌

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  3. Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype vol.96, pp.29, 2010, https://doi.org/10.1097/md.0000000000007387
  4. Fabry Nephropathy: An Evidence-Based Narrative Review vol.43, pp.2, 2010, https://doi.org/10.1159/000488121
  5. Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019 vol.33, pp.3, 2010, https://doi.org/10.1007/s40620-019-00663-6
  6. Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish co vol.58, pp.10, 2021, https://doi.org/10.1136/jmedgenet-2020-107162
  7. High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review vol.11, pp.10, 2021, https://doi.org/10.3390/diagnostics11101779