Familial hyperuricemic nephropathy

This report describes a Polynesian family that had the rare combination of hyperuricemia, precocious gout, hypertension, and renal failure at an early age, with an autosomal dominant inheritance. One family member had renal biopsy evidence of interstitial urate crystal deposition, a surprisingly uncommon observation in such families, and most had decreased fractional excretion of urate, reflecting either decreased secretion or enhanced postsecretory renal reabsorption of uric acid. One patient has had a successful renal transplant. On the basis of these observations, family members of any such index case should be screened for this disorder. Treatment of affected members might include a uricosuric agent and/or allopurinol early in the course of the disorder.