Case report: Unveiling a less severe congenital nephrotic syndrome in a Rapa Nui patient with a NPHS1 Maori founder variant

BackgroundCongenital nephrotic syndrome (CNS) is a severe kidney disorder characterized by edema, massive proteinuria, and hypoalbuminemia that manifests in utero or within three months after birth. CNS affects 1-3 per 100,000 children, primarily associated with genetic variants and occasionally wit...

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Hlavní autoři:	Paola Krall, Angélica Rojo, Anita Plaza, Sofia Canals, María Luisa Ceballos, Francisco Cano, José Luis Guerrero
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2024-05-01
Edice:	Frontiers in Nephrology
Témata:	congenital nephrotic syndrome NPHS1 kidney survival Maori founder variant Rapa Nui (Easter Island)
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fneph.2024.1379061/full
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