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, cilt.55, sa.6, ss.637-640, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 6
  • Basım Tarihi: 2013
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.637-640
  • Anahtar Kelimeler: chronic kidney disease, children, familial juvenile hyperuricemic nephropathy, uromodulin gene mutation, TAMM-HORSFALL PROTEIN, MUTATION
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.