title: Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.
abstract: Chronic kidney disease (CKD) is a life-long condition associated with substantial morbidity and premature death due to complications from a progressive decrease in kidney function. Especially in children, early diagnosis and detection of the etiologic factors are important to improve their health outcomes. Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal-dominant disorder characterized by hyperuricemia with renal uric acid under-excretion and CKD. Genetic studies have revealed mutations in the uromodulin (UMOD) gene. Highlighting the importance of CKD in children, a 14-year-old girl with the rare diagnosis of FJHN is reported herein.
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey. demetalaygut@yahoo.com.
authors.forename: Demet
authors.initials: D
authors.lastname: Alaygut
authors.forename: Meral
authors.initials: M
authors.lastname: Torun-Bayram
authors.forename: Alper
authors.initials: A
authors.lastname: Soylu
authors.forename: Belde
authors.initials: B
authors.lastname: Kasap
authors.forename: Mehmet
authors.initials: M
authors.lastname: Türkmen
authors.forename: Salih
authors.initials: S
authors.lastname: Kavukçu
mesh_terms: D000293:Adolescent; D001706:Biopsy; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006073:Gout / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D033461:Hyperuricemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000209:etiology*; D009154:Mutation; D010375:Pedigree; D058949:Uromodulin / Q000235:genetics* / Q000378:metabolism
chemical_list: D058949:Uromodulin; D004247:DNA