Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.

ABSTRACT: The proximal tubule has a highly efficient endocytic pathway dedicated to reabsorbing albumin and low-molecular-weight proteins that have passed through the glomerular filtration barrier. This pathway is dependent on multi-ligand receptors: megalin and cubilin. Abnormalities in genes associated with endocytosis in the proximal tubule can lead to tubular proteinuria, where the urine contains albumin and low-molecular-weight proteins. Dent disease is a hereditary X-linked disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive kidney dysfunction, often leading to CKD stage 5. CLCN5 is the gene responsible for Dent disease-1 and encodes the voltage-gated chloride channel ClC-5. Meanwhile, OCRL is the causative gene of Dent

SUBMITTER: Sakakibara N 

PROVIDER: S-EPMC12484296 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature