Familial hypouricemia due to isolated renal tubular abnormality.
A family with genetic hypouricemia due to isolated renal tubular abnormality in urate handling is reported. Urinary urate excretion was decreased by 61% following administration of pyrazinamide, and increased by 25% following administration of probenecid. The response to these drug suggest genotype heterogeneity of renal hypouricemia in man.
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D011339:Probenecid; D011718:Pyrazinamide; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D014527:Uric Acid / Q000097:blood* / Q000652:urine
D014527:Uric Acid; D011718:Pyrazinamide; D011339:Probenecid