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Progressive nephropathy is one of the main features of Fabry disease, which largely contributes to the overall morbidity and mortality burden of the disease. Due to the lack of specific biomarkers, the heterogeneity of the disease, and unspecific symptoms, diagnosis is often delayed. Clinical presen ...

Background Fabry disease is a rare X-chromosome linked disease. Due to gene mutation, activity of enzyme agalactosidase A is lowered or absent and sphingolipids care deposited in different organ cells. All males with gene mutation are affected but females too, due to X chromosome inactivation, can f ...

Current biomarkers of Fabry nephropathy lack sensitivity in detecting early kidney damageand do not predict progression of nephropathy. Urinary extracellular vesicles (uEVs) and theirmolecular cargo could reflect early changes in renal impairment as they are secreted by the cellslining the urinary t ...