The Turkish Journal of Pediatrics 2013 , Vol 55 , Num 6
Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy
1 Division of Pediatric Nephrology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey. E-mail: 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. Keywords : chronic kidney disease, children, familial juvenile hyperuricemic nephropathy, uromodulin gene mutation.
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