Characterization Of A New Dent Disease Mouse Model Carrying A Pathogenic Mutation Of Clc-5

Dent Disease is a rare X‐linked inherited renal proximal disorder characterized by low molecular weight (LMW) proteinuria, hypercalciuria, kidney stones and progressive renal failure. Inactivating mutations of the CLCN5 gene encoding the 2Cl−/H+ exchanger ClC‐5 have been identified in approximately two‐thirds of patients with Dent Disease. ClC‐5 is predominantly expressed in early endosomes of proximal tubules where it optimizes the function of a vacuolar H+ pump to ensure an efficient endocytosis of LMW proteins.