TY  - GEN
AU  - Alaygut,Demet
TI  - Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.  
SN  - 0041-4301
AV  - WS 18.2   
PY  - 2013///
CY  - Ankara
PB  - Turkish J Pediatrics
KW  - Pediatrics
KW  - Near East University Article
KW  - Yakın Doğu Üniversitesi Makale
KW  - Chronic kidney disease
N2  - 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
ER  -