A case hypouricemia due to isolated renal defect of uric acid transport

Abstract

A 22-year-old man was found to have low serum uric acid concentration (1.1 to 1.7mg/dl). His urinary clearance of uric acid was markedly increased (26.9 to 35.5ml/minute), and was not decreased after administration of pyrazinamide, but was increased after administration of benzbromarone. No other renal tubular abnormalities were detected. His sister also had hypouricemia and hyperuricosuria. We suggest that the present case had a genetically hereditary determined renal abnormality affecting tubular presecretary reabsorption of uric acid.