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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Ogata, Tsutomu / Toppari, Jorma

12 Issues per year


IMPACT FACTOR 2017: 1.086

CiteScore 2017: 1.07

SCImago Journal Rank (SJR) 2017: 0.465
Source Normalized Impact per Paper (SNIP) 2017: 0.580

Online
ISSN
2191-0251
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Volume 23, Issue 4

Issues

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

Tomozumi Takatani
  • Corresponding author
  • Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Kaoru Matsuo / Kaori Kinoshita / Rieko Takatani / Masanori Minagawa / Yoichi Kohno
Published Online: 2010-09-17 | DOI: https://doi.org/10.1515/jpem.2010.065

ABSTRACT

We described the case of an infant with nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 (AVPR2) gene. A 1-month-old infant showed failure to thrive and hypernatremia. The water deprivation test revealed elevated serum osmolality and low urine osmolality. The patient showed a slight but not significant response to intramuscular injection of arginine vasopressin (AVP). DNA analysis revealed a novel missense mutation involving substitution of proline for leucine at position 173 (P173L), which was reported to be important for stabilizing the hydrogen bond between tyrosine at position 205 and leucine at position 169. This mutation was not detected in 116 ethnic-matched controls. This case, with clinical data including the water deprivation test and P173L mutation, will facilitate understanding the structure and function of the AVPR2.

KEY WORDS: Congenital nephrogenic diabetes insipidus; Vasopressin; V2 receptor gene; Missense mutation; Water deprivation test

About the article

Corresponding author: Tomozumi Takatani MD,


Published Online: 2010-09-17

Published in Print: 2010-04-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 23, Issue 4, Pages 415–418, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2010.065.

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[1]
Daniel Wesche, Peter M. T. Deen, and Nine V. A. M. Knoers
Pediatric Nephrology, 2012, Volume 27, Number 12, Page 2183
[2]
Lingli Huang, Wen Li, Weilin Tang, and Guangxiu Lu
Journal of Pediatric Endocrinology and Metabolism, 2011, Volume 24, Number 9-10

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