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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 / Toppari, Jorma

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Volume 29, Issue 5


Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family

Sumie Yamashita
  • Corresponding author
  • Kitano Hospital Tazuke Kofukai Medical Research Institute, Department of Pediatrics, Osaka, Japan
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/ Astuko Hata
  • Kitano Hospital Tazuke Kofukai Medical Research Institute, Department of Pediatrics, Osaka, Japan
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/ Takeshi Usui
  • Clinical Research Institute for Endocrine and Metabolic Diseases, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
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/ Hirotsugu Oda
  • Kitano Hospital Tazuke Kofukai Medical Research Institute, Department of Pediatrics, Osaka, Japan
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/ Atsushi Hijikata / Tsuyoshi Shirai / Naoto Kaneko
  • Department of Pediatric Nephrology, Tokyo Women’s Medical University School of Medicine, Tokyo, Japan
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/ Daisuke Hata
  • Kitano Hospital Tazuke Kofukai Medical Research Institute, Department of Pediatrics, Osaka, Japan
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Published Online: 2016-03-12 | DOI: https://doi.org/10.1515/jpem-2015-0323


Background: X-linked recessive congenital nephrogenic diabetes insipidus (NDI) is caused by mutations of the arginine vasopressin type 2 receptor gene (AVPR2). More than 200 mutations of the AVPR2 gene with complete NDI have been reported although only 15 mutations with partial NDI has been reported to date.

Methods: We herein report a Japanese kindred with partial NDI. The proband is an 8-year-old boy who was referred to our hospital for nocturnal enuresis. Water deprivation test and hypertonic saline test suggested partial renal antidiuretic hormone arginine vasopressin (AVP) resistance.

Results: Analysis of genomic DNA revealed a novel missense mutation (p.L161P) in the patient. The patient’s mother was heterozygous for the mutation. Three-dimensional (3-D) modeling study showed that L161P possibly destabilizes the transmembrane domain of the V2 receptor, resulting in its misfolding or mislocalization.

Conclusions: Distinguishing partial NDI from nocturnal enuresis is important. A clinical clue for diagnosis of partial NDI is an incompatibly high level of AVP despite normal serum osmolality.

Keywords: AVPR2; nocturnal enuresis; partial nephrogenic diabetes insipidus


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About the article

Corresponding author: Sumie Yamashita, Kitano Hospital Tazuke Kofukai Medical Research Institute, Department of Pediatrics, Osaka, Japan, E-mail:

Received: 2015-08-15

Accepted: 2015-12-30

Published Online: 2016-03-12

Published in Print: 2016-05-01

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 29, Issue 5, Pages 591–596, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0323.

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