Familial hypouricaemia due to renal tubular defect of urate transport.
A 28-year-old man was found to have hypouricaemia (plasma uric acid, 0.40 to 1.25 mg/100 ml). The 24-hour urinary urate excretion on a low purine diet was 690 mg, a value higher than the mean value of 419 mg for gouty Japanese patients. Urate clearance was 88.5 ml/min--approximately the same as the endogeneous creatinine clearance. The ratio of urate clearance to creatinine clearance was scarcely altered by pyrazinamide, but diminished by probenecid (from 69.2% to 52.4%). No other renal tubular abnormalities were detected. The findings in this subject may be accounted for by a nearly complete tubular defect in reabsorptive transport mechanisms of urate. A survey of his family revealed at least three similarly affected persons, who were all from consanguineous marriages. The hypouricaemia was transmitted as an autosomal trait.
D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002940:Circadian Rhythm; D003404:Creatinine / Q000378:metabolism; D006801:Humans; D008297:Male; D010375:Pedigree; D015499:Renal Tubular Transport, Inborn Errors / Q000097:blood*; D014527:Uric Acid / Q000097:blood* / Q000652:urine
D014527:Uric Acid; D003404:Creatinine