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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
- 2016.1
- 수록면
- 88 - 91 (4page)
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초록· 키워드
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Nephrogenic diabetes insipidus (NDI) can cause nonobstructive hydronephrosis.
Congenital NDI (CNDI) is caused by a genetic mutation. This case report presents a 12-year-old girl who was incidentally diagnosed with nonobstructive hydro nephrosis due to NDI caused by AQP2 gene mutation after being evaluated for microscopic hematuria found on routine health examination at school. The pa tient’s medical and family history was unremarkable, and she complained of nocturia only at the time of the clinic visit. Bilateral hydronephrosis on abdominal ultrasonography prompted a water deprivation test, leading to diagnosis of NDI.
Genetic study confirmed p.Asn (AAC)123Ser (AGC) in exon 2 of the AQP2 gene.
Polyuria and hydronephrosis improved following arginine-vasopressin therapy.
CNDI responsive to treatment should be considered as a possible cause of nonob structive hydroureter.
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등록된 정보가 없습니다.
참고문헌 (9)
참고문헌 신청
Dabrowski E / 2016 / Diabetes insipidus in infants and children / Best Pract Res Clin Endocrinol Metab 30:317~328
Maroz N / 2012 / Nonobstructive hydronephrosis due to social polydipsia : a case report / J Med Case Rep 6:376~379
Van Os CH / 1998 / Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus / Proc Assoc Am Physicians 110:395~400
Boccalandro C / 2004 / Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family : evidence of increased frequency of the mutation in the town of origin / J Am Soc Nephrol 15:1223~1231
Fujimoto M / 2014 / Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan / Yonago Acta Med 57:85~91
Maroz N / 2012 / Nonobstructive hydronephrosis due to social polydipsia : a case report / J Med Case Rep 6:376~379
Van Os CH / 1998 / Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus / Proc Assoc Am Physicians 110:395~400
Boccalandro C / 2004 / Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family : evidence of increased frequency of the mutation in the town of origin / J Am Soc Nephrol 15:1223~1231
Fujimoto M / 2014 / Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan / Yonago Acta Med 57:85~91
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