Hereditary Renal Hypouricemia with SLC22A12 Mutation: A Case Report

Hereditary renal hypouricemia (RHUC) is a rare genetic disorder characterized by a defect of uric acid (UA) reabsorption in the proximal renal tubules, resulting in hypouricemia and increased UA clearance.1Windpessl M. Ritelli M. Wallner M. Colombi M. A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia.Am J Nephrol. 2016; 43: 245-250Google Scholar Mutations in the SLC22A12 and SLC2A9 genes, which encode major...