Alaygut, Demet. <br/><br/>
Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.   
Demet Alaygut, Meral Torun-Bayram, Alper Soylu, Belde Kasap, Mehmet Türkmen, Salih Kavukçu.        
 - Ankara :  Turkish J Pediatrics,  2013. 
<br/><br/> 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. 
<br/><br/><label>ISSN: </label>0041-4301  
<br/><br/><label>Nat. Bib. Agency Control No.: </label>000341415700012  
<br/><br/><label>Subjects--Topical Terms: </label><br/>Pediatrics<br/>Near East University Article<br/>Yakın Doğu Üniversitesi Makale<br/>Chronic kidney disease
<br/><br/><label>LC Class. No.: </label>WS 18.2