抄録
Routine laboratory examihation revealed hypouricemia(0.98±0.02mg/dl, Mean±SE)in a 50 - year - old male suffering from Parkinsonism. Consanguinity was recognized in his family, and additional three members were Parkinsonian. The 24 - hour urate excretion was within normal range, and the ratio of renal urate clearance to creatinine clearance (CuA/Ccr)was increased (31.4±1.2%). The renal handling of urate was examined by means of pyrazinamide, probenecid and benzbromarone loading tests. Pyrazinamide did not suppress CuA /Ccr, and no increment of CuA /Ccr was observed during either probenecid or benzbromarone loading test. These data indicate that renal hypouricemia in this case is based on tubular reabsorption defect with impaired response to pyrazinamide. On the other hand, serum hypoxanthine and xanthine levels were elevated, suggesting partial metabolic blockage at xanthine oxidase step or impaired renal transport of oxypurine.
