title: Familial nephropathy with hyperuricemia and gout.
abstract: Chronic interstitial nephropathy with disproportionate hyperuricemia (serum uric acid 10.5-14.8 mg/dl [625-880 mumol/l] at a GFR of 40 ml/min/1.73 m2) was observed in 2 girls and their mother who suffered from gout since the age of 20 years. Urinary excretion of uric acid was normal. Renal biopsies in the 3 patients showed focal tubulointerstitial nephropathy. Absolute values of GFR remained stable in the 2 pediatric patients over a period of 10 years, whereas the older patient required dialysis at the age of 34 years. We speculate that this family suffers from a primary interstitial nephropathy which is accompanied by a subtle defect in tubular excretion of urate. A few similar observations have been reported in literature which suggests that dominantly inherited interstitial nephropathy with hyperuricemia and gout represents a distinct entity.
mesh_terms: D000328:Adult; D001706:Biopsy; D002648:Child; D005260:Female; D005799:Genes, Dominant; D005919:Glomerular Filtration Rate; D006073:Gout / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology; D007684:Kidney Tubules / Q000473:pathology; D010375:Pedigree; D014527:Uric Acid / Q000097:blood*
chemical_list: D014527:Uric Acid