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: demetalaygut@yahoo.com
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.