title: Familial juvenile hyperuricemic nephropathy 1 (FJHN1).
abstract: Familial juvenile hyperuricemic nephropathy 1 (FJHN1) is an autosomal dominant disorder characterized by decreased urinary excretion of urate and hyperuricemia, followed by the development of chronic interstitial nephritis most often leading to progressive renal failure and death in middle age. We report a case of FJHN1 presenting as chronic tophaceous gout, hypertension, renal failure and a family history suggestive of autosomal dominant inheritance, for its rarity.
authors: Rajat
authors: R
authors: Bhargava
authors: Renu
authors: R
authors: Saigal
authors: Rajeev
authors: R
authors: Sharma
authors: Laxmikant
authors: L
authors: Goyal
authors: Abhishek
authors: A
authors: Agrawal
mesh_terms: D000328:Adult; D005260:Female; D006073:Gout / Q000235:genetics; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics; D007674:Kidney Diseases / Q000235:genetics; D008297:Male