지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 52 - 57 (6page)
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초록· 키워드
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A 24-year-old male visited our hospital because of pain in both flanks. His biochemistry profile showed an elevated serum creatinine level and low serum uric acid level. History taking revealed that he had undertaken exercise prior to the acute kidney injury (AKI) event, and he stated that family members had a history of urolithiasis. His renal profile improved after hydration and supportive care during hospitalization. Although the patient was subsequently admitted again due to AKI, his status recovered with similar treatment. Since the diagnosis of the patient was familial renal hypouricemia with exercise-induced AKI, we performed genotyping of SLC22A12, which encodes human urate transporter 1. The diagnosis was confirmed by the detection of a homozygous mutation of W258X. We herein, report a case of familial renal hypouricemia confirmed by genotyping of SLC22A12, and review the relevant literature.
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등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Sperling O / 2006 / Hereditary renal hypouricemia / Molecular Genetics and Metabolism 89(1-2):14~18
Shen H / 2014 / Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review / BMC Pediatrics 14:73
Ishikawa I / 1990 / Exercise-induced acute renal failure in 3patients with renal hypouricemia / Nihon Jinzo Gakkai Shi 32(8):923~928
Ichida K / 2004 / Clinical and Molecular Analysis of Patients with Renal Hypouricemia in Japan-Influence of URAT1 Gene on Urinary Urate Excretion / Journal of the American Society of Nephrology 15(1):164~173
Enomoto A / 2002 / Molecular identification of a renal urate anion exchanger that regulates blood urate levels / Nature 417(6887):447~452
Shen H / 2014 / Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review / BMC Pediatrics 14:73
Ishikawa I / 1990 / Exercise-induced acute renal failure in 3patients with renal hypouricemia / Nihon Jinzo Gakkai Shi 32(8):923~928
Ichida K / 2004 / Clinical and Molecular Analysis of Patients with Renal Hypouricemia in Japan-Influence of URAT1 Gene on Urinary Urate Excretion / Journal of the American Society of Nephrology 15(1):164~173
Enomoto A / 2002 / Molecular identification of a renal urate anion exchanger that regulates blood urate levels / Nature 417(6887):447~452
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