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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 26, 2022; 10(21): 7483-7494
Published online Jul 26, 2022. doi: 10.12998/wjcc.v10.i21.7483
Published online Jul 26, 2022. doi: 10.12998/wjcc.v10.i21.7483
Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review
Yong-Zhang Qin, Yang Wang, Xue-Yan Zhou, Wei-Min Lv, Shi-Hua Hong, Li-Xia Xiao, Department of Endocrinology, The First Affiliated Hospital of Gannan Medical University, Ganzhou 341000, Jiangxi Province, China
Yan-Ming Liu, Department of Endocrinology, The First People’s Hospital of Nankang District, Ganzhou 341400, Jiangxi Province, China
Cong You, Long-Nian Li, Department of Dermatology and Venereology, The First Affiliated Hospital of Gannan Medical University, Ganzhou 341000, Jiangxi Province, China
Author contributions: Qin YZ, Liu YM, and Wang Y contributed equally to this work; Qin YZ and Xiao LX contributed to the design and conception of the study; Wang Y, You C, Li LN, Zhou XY, and Lv WM contributed to data collection; Qin YZ and Liu YM contributed to writing the original draft; Hong SH and Xiao LX revised the manuscript; and all the authors approved the final version of the manuscript.
Supported by the Science and Technology Plan of Health Commission of Jiangxi Province , No. 202130648 ; and the Science and Technology Research Project of Department of Education of Jiangxi Province , No. GJJ201522 .
Informed consent statement: The present study was approved by the Medical Ethics Committee of the First Affiliated Hospital of Gannan Medical University (Ethics Approval Number: LLSC-2021092201) in accordance with the tenets of the Declaration of Helsinki. The patient provided written informed consent for 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: Li-Xia Xiao, MD, Associate Chief Physician, Department of Endocrinology, The First Affiliated Hospital of Gannan Medical University, No. 128 Jinling Road, Ganzhou 341000, Jiangxi Province, China. xlx981107@163.com
Received: December 4, 2021
Peer-review started: December 4, 2021
First decision: January 25, 2022
Revised: January 27, 2022
Accepted: May 27, 2022
Article in press: May 27, 2022
Published online: July 26, 2022
Processing time: 219 Days and 0.3 Hours
Peer-review started: December 4, 2021
First decision: January 25, 2022
Revised: January 27, 2022
Accepted: May 27, 2022
Article in press: May 27, 2022
Published online: July 26, 2022
Processing time: 219 Days and 0.3 Hours
Core Tip
Core Tip: In the present study, we report a patient with hyperthyroidism who was diagnosed with Gitelman syndrome (GS) through genome sequencing. We identified a novel compound heterozygous mutation in SLC12A3. Protein molecular modeling was performed to predict the effects of the identified missense mutations, which cause changes in protein structure and may result in abnormal protein function. All previously reported cases of GS coexisting with autoimmune thyroid disease are reviewed.