{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:31:36Z","timestamp":1787506296677,"version":"build-2736575974"},"reference-count":27,"publisher":"S. Karger AG","issue":"10","license":[{"start":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T00:00:00Z","timestamp":1743724800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T00:00:00Z","timestamp":1743724800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"abstract":"<jats:p>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 \u03b1-galactosidase A, GLA. The classic form of the disease begins in childhood, presenting with a range of signs and symptoms that can lead to severe complications such as stroke, as well as cardiac and renal failure. In the late-onset form, the disease appears in adulthood, often with signs of cardiac involvement. Summary: The N215S (p.Asn215Ser) missense mutation represents the most common late-onset variant in European countries. In these patients, cardiac involvement is usually more prominent than extracardiac signs and symptoms, which is why this form is often referred to as a cardiac variant. Renal involvement in the N215S variant has historically been considered infrequent and relatively mild, contributing little to the overall disease burden of late-onset FD, as it has not been thoroughly investigated. Key Messages: In this review, we examine Fabry nephropathy in patients with the late-onset N215S variant, providing an insight into the clinical and histopathologic aspects of renal involvement in these individuals.<\/jats:p>","DOI":"10.1159\/000545611","type":"journal-article","created":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T12:02:28Z","timestamp":1743854548000},"page":"604-608","source":"Crossref","is-referenced-by-count":5,"title":["The Fabry Nephropathy in Patients with N215S Variant"],"prefix":"10.1159","volume":"149","author":[{"given":"Renzo","family":"Mignani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Marco","family":"Berti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisella","family":"Vischini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Di 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