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Turk J Pediatr. 2013 Nov-Dec;55(6):637-40.

Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.

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Division of Pediatric Nephrology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.


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.

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