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- W192114906 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." @default.
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- W192114906 date "2014-03-01" @default.
- W192114906 modified "2023-09-23" @default.
- W192114906 title "Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy." @default.
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