Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 26, 2022; 10(36): 13443-13450
Published online Dec 26, 2022. doi: 10.12998/wjcc.v10.i36.13443
Congenital nephrogenic diabetes insipidus arginine vasopressin receptor 2 gene mutation at new site: A case report
Lu-Lu Yang, Yan Xu, Jian-Li Qiu, Qian-Yi Zhao, Man-Man Li, Hui Shi
Lu-Lu Yang, Yan Xu, Man-Man Li, Hui Shi, Department of Pediatrics, Henan University of Chinese Medicine, Zhengzhou 450000, Henan Province, China
Jian-Li Qiu, Qian-Yi Zhao, Department of Pediatrics, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou 450000, Henan Province, China
Author contributions: Yang LL reviewed the literature and contributed to manuscript drafting; Xu Y and Qiu JL reviewed the manuscript and guided its revision; Zhao QY participated in the clinical care of patients and collected data; Li MM and Shi H contributed to patient follow-up; Zhao QY and Qiu JL as the co-corresponding author of this manuscript; and all authors commented on previous versions of the manuscript and issued final approval for the version to be submitted.
Informed consent statement: Informed consent was obtained from the patient for the publication of this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jian-Li Qiu, MD, PhD, Chief Physician, Department of Pediatrics, The First Affiliated Hospital of Henan University of Chinese Medicine, No. 19 Renmin Road, Jinshui District, Zhengzhou 450000, Henan Province, China. qiujianli@126.com
Received: September 29, 2022
Peer-review started: September 29, 2022
First decision: October 31, 2022
Revised: November 11, 2022
Accepted: December 8, 2022
Article in press: December 8, 2022
Published online: December 26, 2022
Processing time: 88 Days and 2.6 Hours
Abstract
BACKGROUND

Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary disorder. It is associated with mutations in the arginine vasopressin receptor 2 (AVPR2) gene and aquaporin 2 (AQP2) gene, and approximately 270 different mutation sites have been reported for AVPR2. Therefore, new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease. We report a case of a novel AVPR2 gene mutation locus and a new clinical mani-festation.

CASE SUMMARY

We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth. Laboratory tests showed electrolyte disturbances and low urine specific gravity, and imaging tests showed no abnormalities. Genetic testing revealed a novel X-linked recessive missense mutation, c.283 (exon 2) C>T (p.P95S). This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence. The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation. The treatment strategy for this patient was divided into two stages, including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothia-zide (1-2 mg/kg) after a clear diagnosis. After follow-up of one and a half years, the patient gradually improved.

CONCLUSION

AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.

Keywords: Congenital nephrogenic diabetes insipidus, Arginine vasopressin receptor 2 gene mutation, New site, Diarrhea, Case report

Core Tip: In this case, a pediatric patient with congenital nephrogenic diabetes insipidus harbored a mutation in the arginine vasopressin receptor 2 (AVPR2) gene at a new locus. In addition, the diarrhea observed in this case is likely related to the novel AVPR2 gene mutation. Therefore, the description of new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of the disease. We report a case harboring an AVPR2 gene mutation at a new locus and a new clinical manifestation.