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   Articles with "fabry nephropathy" as a keyword



#691 Histological changes and a3ß1 integrin and MMP-1 expressions in early Fabry nephropathy in female patients

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recommendations! Published in 2025 at "Nephrology Dialysis Transplantation"

DOI: 10.1093/ndt/gfaf116.1112

Abstract: Fabry nephropathy (FN), characterized by proteinuira and progressive loss of renal function, may lead to ESKD and, consequently, to significant morbidity and mortality. Due to the skewed X inactivation, Fabry manifestations, including FN, may be… read more here.

Keywords: fibrosis; area; fabry nephropathy; female patients ... See more keywords

Enzyme replacement therapy dose and Fabry nephropathy

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recommendations! Published in 2018 at "Nephrology Dialysis Transplantation"

DOI: 10.1093/ndt/gfy089

Abstract: In Fabry disease (FD), GLA mutations cause an enzyme deficiency, glycosphingolipid accumulation, and potentially lethal kidney, heart and central nervous system involvement [1]. Globotriaosylceramide (Gb3) is the best-characterized accumulated glycosphingolipid, but the relative increase in… read more here.

Keywords: fabry nephropathy; replacement therapy; fabry; enzyme replacement ... See more keywords

The Fabry Nephropathy in Patients with N215S Variant

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recommendations! Published in 2025 at "Nephron"

DOI: 10.1159/000545611

Abstract: Abstract Background: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that affects both males and females. It is caused by pathogenic variants in the gene that encodes the enzyme α-galactosidase A, GLA. The… read more here.

Keywords: disease; n215s variant; fabry; nephropathy patients ... See more keywords

Functional and histopathologic correlation in the fabry nephropathy with N215S genotype

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recommendations! Published in 2025 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-025-03994-9

Abstract: Late-onset Anderson-Fabry disease appears in adulthood, usually with prevalent cardiac involvement. The N215S (p.Asn215Ser) missense mutation represents the most frequent late-onset variant in European countries. The N215S nephropathy was then investigated from a clinical and… read more here.

Keywords: ckd stage; fabry nephropathy; min 73m2; mean egfr ... See more keywords

The role of tubular cells in the pathogenesis of Fabry nephropathy

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recommendations! Published in 2024 at "Frontiers in Cardiovascular Medicine"

DOI: 10.3389/fcvm.2024.1386042

Abstract: The pathophysiology of Fabry nephropathy (FN) is induced by galactosidase A deficiency with a chronic exposure of glycolipids to every lineage of renal cells. Tissue damage is attributed to the activation of molecular pathways, resulting… read more here.

Keywords: cells pathogenesis; role; fabry nephropathy; tubular cells ... See more keywords

Urinary-derived extracellular vesicles reveal a distinct microRNA signature associated with the development and progression of Fabry nephropathy

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recommendations! Published in 2023 at "Frontiers in Medicine"

DOI: 10.3389/fmed.2023.1143905

Abstract: Introduction Early initiation is essential for successful treatment of Fabry disease, but sensitive and noninvasive biomarkers of Fabry nephropathy are lacking. Urinary extracellular vesicles (uEVs) represent a promising source of biomarkers of kidney involvement. Among… read more here.

Keywords: development progression; progression; fabry nephropathy; progression fabry ... See more keywords