Mónica Furlano, Melissa Pilco-Teran, Marc Pybus, Víctor Martínez, Miriam Aza-Carmona, Asunción Rius, Vanessa Pérez-Gomez, Gerson Berná, Jaime Mazo, Jonathan Hernández, Leonor Fayos, Elizabet Viera, Ignasi Gich, Hugo Vergara Pérez, Elena Gomá Garcés, José Luis Albero Dolon, Elisabet Ars, Roser Torra
BACKGROUND: Clinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3/COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4 related disorder) is huge; many individuals are asymptomatic or show microhematuria, while others may develop proteinuria and chronic kidney disease (CKD). The prevalence of simple kidney cysts (KC) in the general population varies according to age, and patients with advanced CKD are prone to have them...
February 5, 2024: Nephrology, Dialysis, Transplantation