期刊
CLINICA CHIMICA ACTA
卷 438, 期 -, 页码 195-204出版社
ELSEVIER
DOI: 10.1016/j.cca.2014.08.002
关键词
Fabry disease; Mass spectrometry; Biomarkers; Globotriaosylsphingosine and analogues; Globotriaosylceramide; Children
资金
- Genzyme (A Sanofi company)
- Canadian Institutes of Health Research (CIHR) [ISO-86229]
Background: Fabry disease is an X-linked lysosomal storage disorder affecting both males and females with tremendous genotypic/phenotypic variability. Concentrations of globotriaosylceramide (Gb(3)), globotriaosylsphingosine (lyso-Gb(3))/related analogues were investigated in pediatric and adult Fabry cohorts. The aims of this study were to transfer and validate an HPLC-MS/MS methodology on a UPLC-MS/MS new generation platform, using an HPLC column, for urine analysis of treated and untreated pediatric and adult Fabiy patients, to establish correlations between the excretion of Fabry biomarkers with gender, treatment, types of mutations, and to evaluate the bio-marker reliability for early detection of pediatric Fabry patients. Method: A UPLC-MS/MS was used for biomarker analysis. Results: Reference values are presented for all biomarkers. Results show that gender strongly influences the excretion of each biomarker in the pediatric Fabiy cohort, with females having lower urinary levels of all biomarkers. Urinary distribution of lyso-Gb(3)/related analogues in treated Fably males was similar to the untreated and treated Fabry female groups in both children and adult cohorts. Children with the late-onset p.N215S mutation had normal urinary levels of Gb(3), and lyso-Gb(3) but abnormal levels of related analogues. Conclusions: In this study, Fabry males and most Fabry females would have been diagnosed using the urinary lyso-Gb(3)/related analogue profile. (C) 2014 Elsevier B.V. All rights reserved.
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