Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
Andrea Domingo-GallegoMarc PybusLeire MadariagaJuan Alberto Piñero-FernándezSara González-PastorMercedes López-GonzálezEsther Simarro-RuedaMaría Luisa Quintanilla-MataMaría Luisa Matoses-RuipérezLaia Ejarque-VilaEmilie Cornec-Le GallLluís GuiradoRoser TorraGema AricetaElisabet ArsPublished in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2021)
Identification of C-terminal pathogenic CUBN variants is diagnostic of an entity characterized by glomerular proteinuria, normal kidney histology, and lack of response to ACEi/ARB treatment. This study adds evidence and increases awareness about albuminuria caused by C-terminal variants in the CUBN gene, which is a benign condition usually diagnosed in childhood with preserved renal function until adulthood.