Relative versus absolute globotriaosylsphingosine changes and kidney outcomes in Fabry disease
- 1Division of Nephrology, Kobe University Graduate School of Medicine, Kobe, Japan
- 2Corresponding author at: Division of Nephrology, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan.
Abstract
Background: Plasma globotriaosylsphingosine (lyso-Gb3) concentrations decrease after enzyme replacement therapy (ERT) in patients with Fabry disease (FD). However, it remains unclear whether absolute or relative changes in lyso-Gb3 concentrations better reflect treatment response. We evaluated the clinical relevance of absolute and relative changes in lyso-Gb3 concentrations after ERT. Methods: This retrospective observational study included 16 patients with FD (8 males and 8 females) with elevated baseline lyso-Gb3 concentrations and paired measurements at baseline and one year after ERT. Absolute and relative changes in lyso-Gb3 concentrations were assessed, and their relationships with baseline lyso-Gb3 concentrations were examined. Kidney outcomes, including the estimated glomerular filtration rate (eGFR) slope and percent change in urinary albumin-to-creatinine ratio (UACR), were analyzed using linear mixed-effects models. Results: ERT significantly reduced plasma lyso-Gb3 concentrations in both sexes. Absolute changes in lyso-Gb3 concentrations were strongly correlated with baseline lyso-Gb3 concentrations, particularly in males, whereas relative changes showed weaker dependence on baseline concentrations. In males, larger relative reductions in lyso-Gb3 concentrations were associated with a slower decline in eGFR. Smaller relative reductions were associated with greater increases in UACR in the overall cohort, but in males this was only a nonsignificant trend. Conclusion: Relative changes in lyso-Gb3 concentrations after ERT appeared to be less influenced by baseline lyso-Gb3 concentrations than absolute changes. Associations with kidney outcomes were observed in males but were not demonstrated in females. Relative changes in lyso-Gb3 concentrations may provide additional information for assessing treatment response in FD.
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BibTeX
@article{hirai2026relative,
title = {{Relative versus absolute globotriaosylsphingosine changes and kidney outcomes in Fabry disease}},
author = {Toshiyuki Hirai and Shunsuke Goto and Hayaki Okamoto and Momoko Tabuchi and Mika Fujita and Hideki Fujii},
journal = {Molecular Genetics and Metabolism Reports},
year = {2026},
month = oct,
doi = {10.1016/j.ymgmr.2026.101378},
url = {https://doi.org/10.1016/j.ymgmr.2026.101378},
note = {CC BY},
}
RIS
TY - JOUR
TI - Relative versus absolute globotriaosylsphingosine changes and kidney outcomes in Fabry disease
AU - Toshiyuki Hirai
AU - Shunsuke Goto
AU - Hayaki Okamoto
AU - Momoko Tabuchi
AU - Mika Fujita
AU - Hideki Fujii
PY - 2026
DA - 2026/10/31
JO - Molecular Genetics and Metabolism Reports
DO - 10.1016/j.ymgmr.2026.101378
UR - https://doi.org/10.1016/j.ymgmr.2026.101378
AB - Background: Plasma globotriaosylsphingosine (lyso-Gb3) concentrations decrease after enzyme replacement therapy (ERT) in patients with Fabry disease (FD). However, it remains unclear whether absolute or relative changes in lyso-Gb3 concentrations better reflect treatment response. We evaluated the clinical relevance of absolute and relative changes in lyso-Gb3 concentrations after ERT. Methods: This retrospective observational study included 16 patients with FD (8 males and 8 females) with elevated baseline lyso-Gb3 concentrations and paired measurements at baseline and one year after ERT. Absolute and relative changes in lyso-Gb3 concentrations were assessed, and their relationships with baseline lyso-Gb3 concentrations were examined. Kidney outcomes, including the estimated glomerular filtration rate (eGFR) slope and percent change in urinary albumin-to-creatinine ratio (UACR), were analyzed using linear mixed-effects models. Results: ERT significantly reduced plasma lyso-Gb3 concentrations in both sexes. Absolute changes in lyso-Gb3 concentrations were strongly correlated with baseline lyso-Gb3 concentrations, particularly in males, whereas relative changes showed weaker dependence on baseline concentrations. In males, larger relative reductions in lyso-Gb3 concentrations were associated with a slower decline in eGFR. Smaller relative reductions were associated with greater increases in UACR in the overall cohort, but in males this was only a nonsignificant trend. Conclusion: Relative changes in lyso-Gb3 concentrations after ERT appeared to be less influenced by baseline lyso-Gb3 concentrations than absolute changes. Associations with kidney outcomes were observed in males but were not demonstrated in females. Relative changes in lyso-Gb3 concentrations may provide additional information for assessing treatment response in FD.
SN - 2214-4269
ER -