ArticleOrphanet journal of rare diseases2025
Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
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12 authors.
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Abstract
RATIONALE &
objectiveLate-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 histopathological point of view. STUDY
designRenal and cardiac assessments were evaluated at baseline. The standardized scoring system of histologic involvement proposed by International Study Group of Fabry Nephropathy was applied to kidney biopsies, performed before the treatment start. A deeper digital histological reinterpretation was provided in a subgroup. Treated patients' renal function was evaluated at diagnosis (T0), after 5 years (T1) and after 10 years (T2) from the treatment start. SETTING &
participants27 patients (11 males, 16 female) with a N215S variant were evaluated.
findingsMean eGFR at diagnosis was 84.98 ± 26.4 mL/min/1.73m LIMITATIONS: The main limitation was the number of patients, as well as the number of available kidney and cardiac biopsies.
conclusionsEven at early stages, N215S patients display typical histological abnormalities of Fabry disease. Moreover, chronic kidney disease seems to progress over time in treated patients, with arterial and arteriolar intimal fibrosis.
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