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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 44 - 48 (5page)
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Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion exchanger (URAT1). The majority of iRHUC patients are asymptomatic, especially during childhood, and thus many cases go undiagnosed or they are diagnosed late in older age with complications of hematuria, renal stones, or acute kidney injury (AKI). We report a case of a 7-year-old boy with subtle symptoms such as general weakness and dizziness and revealed hypouricemia and incidental nephrolithiasis. Homozygous mutations were detected in the SLC22A12 (c.774G>A) by molecular analysis. The present case suggests that fractional excretion of uric acid (FEUA) screening could be better followed by the coincidental discovery of hypouricemia, to prevent conflicting complications of iRHUC, even with normal urine uric acid to creatinine ratio (UUA/UCr), and sequential genetic analysis if needed.
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참고문헌 (20)
참고문헌 신청
Enomoto A / 2002 / Molecular identification of a renal urate anion exchanger that regulates blood urate levels / Nature 417:447~452
Stiburkova B / 2013 / Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: Biochemical, genetics and functional analysis / Eur J Hum Genet 21:1067~1073
Vitart V / 2008 / SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout / Nat Genet 40:437~442
Nishizaki N / 2012 / Hereditary renal hypouricemia : a cause of calcium oxalate urolithiasis in a young female / Clin Nephrol 77:161~163
Kamei K / 2014 / Acute kidney injury after acute gastroenteritis in an infant with hereditary hypouricemia / Eur J Pediatr 173:247~249
Stiburkova B / 2013 / Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: Biochemical, genetics and functional analysis / Eur J Hum Genet 21:1067~1073
Vitart V / 2008 / SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout / Nat Genet 40:437~442
Nishizaki N / 2012 / Hereditary renal hypouricemia : a cause of calcium oxalate urolithiasis in a young female / Clin Nephrol 77:161~163
Kamei K / 2014 / Acute kidney injury after acute gastroenteritis in an infant with hereditary hypouricemia / Eur J Pediatr 173:247~249
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