Evaluation of the proximal tubular function in individuals with primary renal hypouricemia: an NMR-based metabonomic study

Primary renal hypouricemia (PRH) refers to a rare condition of increased renal urate clearance, caused by an isolated inborn error of membrane transport of urate in the renal proximal tubule. Several cases of exercise‐induced acute renal failure and urolithiasis have been reported. This is the first study that assessed tubular function in PRH using NMR‐based metabonomic urine analysis. The study groups consisted of 36 unrelated asymptomatic subjects with PRH, defined as serum uric acid levels (sUA) 10%, after exclusion of diseases and drugs that may affect urate homeostasis, and 39 sex and age‐matched healthy individuals with normal sUA levels (>4.0 mmol/L) and FEUA