Article
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression.
Clinical genetics - 1 Jun 2020
Peces Ramón, Mena Rocio, Peces Carlos, Cuesta Emilio, Selgas Rafael, Barruz Pilar, Lapunzina Pablo, Nevado Julián
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous inherited disease characterized by renal and extrarenal manifestations with progressive fluid-filled cyst development leading to end-stage renal disease. The rate of disease progression in ADPKD exhibits high inter- and intrafamilial variability suggesting involvement of modifier genes and/or environmental factors. Renal hypouricemia (RHUC)...
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