Jump to ContentJump to Main Navigation
Show Summary Details
More options …

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


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

Online
ISSN
2191-0251
See all formats and pricing
More options …
Volume 29, Issue 5

Issues

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

Abstract

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

References

  • 1.

    Birnbaumer M, Seibold A, Gilbert S, Ishido M, Barberis C, et al. Molecular cloning of the receptor for human antidiuretic hormone. Nature 1992;357:333–5.Google Scholar

  • 2.

    Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, et al. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 1994;264:92–5.Google Scholar

  • 3.

    Spanakis E, Milord E, Gragnoli C. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. J Cell Physiol 2008;217:605–17.Web of ScienceGoogle Scholar

  • 4.

    Fujimoto M, Okada S, Kawashima Y, Nishimura R, Miyahara N, et al. Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan. Yonago Acta Med 2014;57:85–91.Google Scholar

  • 5.

    Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol Endocrinol 1997;11:1806–13.Google Scholar

  • 6.

    Bockenhauer D, Carpentier E, Rochdi D, van’t Hoff W, Breton B, et al. Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus. Nephron Physiol 2010;114:1–10.Google Scholar

  • 7.

    Inaba S, Hatakeyama H, Taniguchi N, Miyamori I. The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. J Clin Endocrinol Metab 2001;86:381–5.Google Scholar

  • 8.

    Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, et al. Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. J Hum Genet 2002;47:66–73.Google Scholar

  • 9.

    Takahashi K, Makita N, Manaka K, Hisano M, Akioka Y, et al. V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists. J Biol Chem 2012;287:2099–106.Web of ScienceGoogle Scholar

  • 10.

    Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, et al. Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. Horm Res Paediatr 2010;73:349–54.Google Scholar

  • 11.

    Szalai C, Triga D, zinner A. C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabete. Hum Mutat 1998;12:137–8.Google Scholar

  • 12.

    Neocleous V, Skordis N, Shammas C, Efstathiou E, Mastroyiannopoulos NP, et al. Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. Metabolism 2012;61:922–30.Google Scholar

  • 13.

    Wildin RS, Cogdell DE, Valadez V. AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus. Kidney Int 1998;54:1909–22.Google Scholar

  • 14.

    Tajima T, Nakae J, Takekoshi Y, Takahashi Y, Yuri K, et al. Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus. Pediatr Res 1996;39:522–6.Google Scholar

  • 15.

    Faerch M, Christensen JH, Corydon TJ, Kamperis K, de Zegher F, et al. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene. Clin Endocrinol 2008;68:395–403.Google Scholar

  • 16.

    Ala Y, Morin D, Mouillac B, Sabatier N, Vargas R, et al. Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. J Am Soc Nephrol 1998;9:1861–72.Google Scholar

  • 17.

    Robertson GL, Mahr EA, Athar S, Sinha T. Development and clinical application of a new method for the radioimmunoassay of arginine vasopressin in human plasma. J Clin Invest 1973;52:2340–52.Google Scholar

  • 18.

    Soding J, Biegert A, Lupas AN. The HHpred interactive server for protein homology detection and structure prediction. Nucleic Acids Res 2005;33:W244–8.Google Scholar

  • 19.

    Hijikata A, Yura K, Noguti T. Go M. Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improve them by introducing solvent accessibility. Proteins 2011;79:1868–77.Web of ScienceGoogle Scholar

  • 20.

    Marti-Renom MA, Stuart AC, Fiser A, Sanchez R, Melo F, et al. Comparative protein structure modeling of genes and genomes. Annu Rev Biophys Biomol Struct 2000;29:291–325.Google Scholar

  • 21.

    Laskowski RA, MacArthur MW, Moss DS, Thornton JM. PROCHECK: a program to check the stereochemical quality of protein structures. J Appl Crystallogr 1993;26:283–91.Google Scholar

  • 22.

    Nejsum LN, Christensen TM, Robben J H, Milligan G, Deen PM, et al. Novel mutation in the AVPR2 gene in a Danish male with nephrogenic diabetes insipidus caused by ER retention and subsequent lysosomal degradation of the mutant receptor. NDT Plus 2011;4:158–63.Google Scholar

  • 23.

    Fujiwara TM, Bichet DG. Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol 2005;16:2836–46.Google Scholar

  • 24.

    Hong CR, Kang HG, Choi HJ, Cho MH, Lee JW, et al. X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study. J Pediatr Endocrinol Metab 2014;27:93–9.Google Scholar

  • 25.

    Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, et al. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet 1994;55:278–86.Google Scholar

  • 26.

    Rochdi MD, Vargas GA, Carpentier E, Oligny-Longpré G, Chen S, et al. Functional characterization of vasopressin type 2 receptor substitutions (R137H/C/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments. Mol Pharmacol 2010;77:836–45.Google Scholar

  • 27.

    Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, et al. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 2000;11:1044–54.Google Scholar

  • 28.

    van Lieburg AF, Knoers NV, Monnens LA. Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol 1999;10:1958–64.Google Scholar

  • 29.

    Nomura Y, Onigata K, Nagashima T, Yutani S, Mochizuki H, et al. Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation. J Clin Endocrinol Metab 1997;82:3434–7.Google Scholar

  • 30.

    Giri D, Hart R, Jones C, Ellis I, Ramakrishnan R. An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter. J Pediatr Endocrinol Metab 2016;1:93–6.Web of ScienceGoogle Scholar

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.

Export Citation

©2016 by De Gruyter.Get Permission

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Akihiro Kanematsu
International Neurourology Journal, 2016, Volume 20, Number Suppl 2, Page S105
[2]
Werner Keenswijk and Johan Vande Walle
Pediatric Nephrology, 2017, Volume 32, Number 5, Page 769

Comments (0)

Please log in or register to comment.
Log in