A Novel Missense Mutation in the AVPR2 Gene of a Japanese Infant with Nephrogenic Diabetes Insipidus

2010 ◽  
Vol 23 (4) ◽  
Author(s):  
Tomozumi Takatani ◽  
Kaoru Matsuo ◽  
Kaori Kinoshita ◽  
Rieko Takatani ◽  
Masanori Minagawa ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Nephrogenic Diabetes Insipidus

A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene

2007 ◽  
Vol 22 (5) ◽  
pp. 670-673 ◽  
Author(s):  
Akira Ashida ◽  
Daisuke Yamamoto ◽  
Hyogo Nakakura ◽  
Hideki Matsumura ◽  
Shinichi Uchida ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Nephrogenic Diabetes Insipidus

scholarly journals A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus

Medicine ◽  
2019 ◽  
Vol 98 (17) ◽  
pp. e15348 ◽  
Author(s):  
Min Zhang ◽  
Qin Yu ◽  
Chen Chen ◽  
Jian Han ◽  
Bin Cheng ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Nephrogenic Diabetes Insipidus

scholarly journals A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus

2010 ◽  
Vol 3 (6) ◽  
pp. 542-544
Author(s):  
D. Kobayashi ◽  
S. K. Nagaraj ◽  
J.-J. Lin ◽  
D. G. Bichet
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Nephrogenic Diabetes Insipidus ◽  
De Novo

scholarly journals Congenital nephrogenic diabetes insipidus accompanied with central nephrogenic diabetes secondary to pituitary surgery -a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei Zhang ◽  
Yimin Shen ◽  
Yuezhong Ren ◽  
Yvbo Xin ◽  
Lijun Wang
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Direct Detection ◽  
Urine Volume ◽  
Pituitary Surgery ◽  
Accurate Method ◽  
Heterozygous Mutation ◽  
Case Presentation ◽  
Congenital Nephrogenic Diabetes Insipidus

Abstract Background Diabetes insipidus (DI) can be a common cause of polydipsia and polyuria. Here, we present a case of congenital nephrogenic diabetes insipidus (CNDI) accompanied with central diabetes insipidus (CDI) secondary to pituitary surgery. Case presentation A 24-year-old Chinese woman came to our hospital with the complaints of polydipsia and polyuria for 6 months. Six months ago, she was detected with pituitary apoplexy, and thereby getting pituitary surgery. However, the water deprivation test demonstrated no significant changes in urine volume and urine gravity in response to fluid depression or AVP administration. In addition, the genetic results confirmed a heterozygous mutation in arginine vasopressin receptor type 2 (AVPR2) genes. Conclusions She was considered with CNDI as well as acquired CDI secondary to pituitary surgery. She was given with hydrochlorothiazide (HCTZ) 25 mg twice a day as well as desmopressin (DDAVP, Minirin) 0.1 mg three times a day. There is no recurrence of polyuria or polydipsia observed for more than 6 months. It can be hard to consider AVPR2 mutation in female carriers, especially in those with subtle clinical presentation. Hence, direct detection of DNA sequencing with AVPR2 is a convenient and accurate method in CNDI diagnosis.

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