title: Tophus gout and chronic kidney disease in a young female patient: report of familial juvenile hyperuricemic nephropathy in three generations of the same family.
abstract: A 20-year-old female was admitted with tophus gout and chronic kidney disease (CKD), progressing to dialysis need and death. The familial investigation evidenced several cases of hyperuricemia, gout and CKD, as well as several cases of early death due to CKD. After analyzing these cases, it was concluded that the diagnosis was familial juvenile hyperuricemic nephropathy. This is an autosomal dominant disorder caused by mutations in the uromodulin gene, characterized by early beginning hyperuricemia and gout, in men and women, associated with progressive CKD.
authors: Department of Internal Medicine, School of Medicine, Federal University of Ceará, Fortaleza, Ceará, Brazil. mmcmedeiros@hotmail.com
authors: Marta M C
authors: MM
authors: Medeiros
authors: Geraldo B
authors: GB
authors: Silva
authors: Elizabeth F
authors: EF
authors: Daher
mesh_terms: D005260:Female; D006073:Gout / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D033461:Hyperuricemia / Q000175:diagnosis* / Q000235:genetics; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D051436:Renal Insufficiency, Chronic / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult