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Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology
Hassan Elsaid1, Jessica Furriol1,2, Øystein Eikrem1,2
1Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway.
Disease Models & Mechanisms
|May 29, 2026
Summary
Fabry nephropathy, caused by GLA variants, leads to kidney failure via globotriaosylceramide accumulation. New models reveal Gb3-independent mechanisms, improving treatment strategies for Fabry disease.
Area of Science:
- Nephrology
- Genetics
- Rare Diseases
Background:
- Fabry nephropathy, a complication of Fabry disease, results from pathogenic GLA variants.
- These variants impair alpha-galactosidase A activity, causing globotriaosylceramide (Gb3) buildup in kidneys.
- Gb3 accumulation is a primary driver of kidney failure in Fabry disease.
Purpose of the Study:
- To review recent advances in experimental models for Fabry nephropathy.
- To elucidate both Gb3-dependent and Gb3-independent pathogenic mechanisms.
- To assess the translational potential of various model systems for therapeutic development.
Main Methods:
- Review of cellular systems, patient-derived kidney organoids, and animal models (zebrafish, Drosophila, mice, rats).
- Analysis of studies elucidating Gb3-dependent and Gb3-independent pathways.
- Evaluation of established therapies like enzyme replacement and pharmacological chaperones.
Main Results:
- Experimental models have uncovered novel Gb3-independent pathogenic mechanisms.
- Factors beyond Gb3, including lyso-Gb3, alpha-synuclein, and endothelial dysfunction, contribute to disease progression.
- Current therapies face challenges in halting disease progression, highlighting the need for new approaches.
Conclusions:
- Diverse experimental models offer unique insights into Fabry nephropathy pathogenesis.
- Understanding Gb3-independent mechanisms is crucial for developing precision medicine strategies.
- Further research using these models is essential for advancing therapeutic development for Fabry disease.
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