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Congenital Nephrogenic Diabetes Insipidus Presented with Bilateral Hydronephrosis: Genetic Analysis of V2R Gene Mutations

이상철|송영수|김형종|김주성|최훈영|강신욱|유태현|류동렬
연세대학교의과대학 (Yonsei University College of Medicine)|2006.02|Yonsei Medical Journal|제47권 제1호|pp. 126-130

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참고문헌

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초록

Abstract

Most cases of hydronephrosis are caused by urinary tract obstruction. However, excessive polyuric syndrome rarely gives rise to non-obstructive hydronephrosis, megaureter, and a distended bladder. The authors report here on two cases of congenital nephrogenic diabetes insipidus (NDI) with severe bilateral hydronephrosis and megaureter. It is Interesting that the patients were symptomless except for their polyuria, and they both presented with bilateral hydronephrosis. Fluid deprivation testing revealed the presence of AVP resistant NDI. Gene analysis for these patients showed the AVP receptor 2 (V2R) missense mutations (Q225X and S126F), which have previously been reported on in other studies. We made the diagnosis of NDI by using a physiologic test, and we confirmed it by mutation analysis of the V2R gene.

참고문헌 (20)

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관련 논문AI추천

The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation강희경, 성문우, Ahn Yo Han, Chae Seung Won, Kim Boram, Kim Man Jin, Lee Jee Soo, Lim Han Sol, Park Jae Hyeon대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제3호Nonobstructive Bilateral Hydronephrosis & Hydroureter from Nephrogenic Diabetes Insipidus with a Novel Mutation of AQP2 Gene (p.A123G)남궁미경, Jeon Ihn Soo, Ki Sup Song대한소아신장학회 · Childhood Kidney Diseases2016 · 제20권 제2호A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis조민현, Eun Joo Lee, Hae Min Jang, Hee Sun Baek, Hyunwoo Bae대한소아신장학회 · Childhood Kidney Diseases2020 · 제24권 제2호A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program박지숙, 윤희상, 임재영, Eun Sil Park, Hyang-Ok Woo, Jae Young Cho, Ji-Hyun Seo, Min-Ji Kim대한소아신장학회 · Childhood Kidney Diseases2020 · 제24권 제2호Desmopressin responding female nephrogenic diabetes insipidus: a case reportHae Il Cheong, Jung Won Lee, Juyeon Lee, Ki Soo Pai대한소아신장학회 · Childhood Kidney Diseases2022 · 제26권 제2호유전자 검사를 통해 진단한 선천성 신성 요붕증 1례기창석, 김두권, 김애숙, 김종원, 김지현, 이동석, 이선주, 조성민, 최성민대한소아신장학회 · Childhood Kidney Diseases2005 · 제9권 제2호

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