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Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy. (Alaygut, Demet.)
Bibliographical information (record 266934)
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Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.
Author:
Alaygut, Demet. Search Author in Amazon Books

Publisher:
Turkish J Pediatrics,
Edition:
2013.
Classification:
WS 18.2
Detailed notes
    - 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.
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Status
Library
Section
EOL-1448
Item available
NEU Grand LibraryOnline (WS 18.2 .C47 2013)
Online electronic

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