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

Authors
 Tae-Hyun Yoo  ;  Dong-Ryeol Ryu  ;  Young Soo Song  ;  Sang Chul Lee  ;  Hyung Jong Kim  ;  Joo Seong Kim  ;  Hoon Young Choi  ;  Shin-Wook Kang 
Citation
 YONSEI MEDICAL JOURNAL, Vol.47(1) : 126-130, 2006 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2006
MeSH
Adult ; DNA Mutational Analysis ; Diabetes Insipidus, Nephrogenic/complications ; Diabetes Insipidus, Nephrogenic/diagnosis* ; Diabetes Insipidus, Nephrogenic/genetics ; Humans ; Hydronephrosis/complications ; Hydronephrosis/diagnosis* ; Hydronephrosis/genetics ; Male ; Mutation, Missense ; Polyuria/complications ; Polyuria/diagnosis ; Polyuria/genetics ; Receptors, Vasopressin/genetics*
Keywords
Bilateral hydronephrosis ; congenital nephrogenic diabetes insipidus ; V2R gene mutation
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.
Files in This Item:
T200605460.pdf Download
DOI
10.3349/ymj.2006.47.1.126
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Shin Wook(강신욱) ORCID logo https://orcid.org/0000-0002-5677-4756
Kim, Joo Sung(김주성)
Kim, Hyung Jong(김형종)
Ryu, Dong Ryeol(류동열)
Song, Young Soo(송영수)
Yoo, Tae Hyun(유태현) ORCID logo https://orcid.org/0000-0002-9183-4507
Lee, Sang Chul(이상철)
Choi, Hoon Young(최훈영) ORCID logo https://orcid.org/0000-0002-4245-0339
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/111127
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