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

Alaygut D., Torun-Bayram M., SOYLU A., Kasap B., Turkmen M., KAVUKÇU S.

TURKISH JOURNAL OF PEDIATRICS, vol.55, no.6, pp.637-640, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 6
  • Publication Date: 2013
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.637-640
  • Keywords: chronic kidney disease, children, familial juvenile hyperuricemic nephropathy, uromodulin gene mutation, TAMM-HORSFALL PROTEIN, MUTATION
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.