Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 26, 2022; 10(9): 2844-2850
Published online Mar 26, 2022. doi: 10.12998/wjcc.v10.i9.2844
Early diagnosis of Gitelman syndrome in a young child: A case report
Chun-Yen Wu, Ming-Hsein Tsai, Chia-Chun Chen, Chuan-Hong Kao
Chun-Yen Wu, Chia-Chun Chen, Chuan-Hong Kao, Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City 220, Taiwan
Ming-Hsein Tsai, Department of Internal Medicine, Shin-Kong Wu Ho-Su Memorial Hospital, Taipei 111, Taiwan
Author contributions: Wu CY and Tsai MH analyzed the data and wrote the manuscript; Kao CH and Chen CC designed the research study; all authors have read and approved the final manuscript.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: This case report conforms to the CARE Checklist (2016) statement. Upload documents to attachments.
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: Chuan-Hong Kao, MD, MS, Attending Doctor, Department of Pediatrics, Far Eastern Memorial Hospital, No. 21 Sec. 2, Nanya S. Road, Banciao District, New Taipei City 220, Taiwan. kche4324@gmail.com
Received: August 23, 2021
Peer-review started: August 23, 2021
First decision: November 17, 2021
Revised: December 11, 2021
Accepted: February 19, 2022
Article in press: February 19, 2022
Published online: March 26, 2022
Core Tip

Core Tip: In this study, the genetic diagnosis of Gitelman syndrome (GS) was established in a Taiwanese family with three affected individuals, two of them being young children without obvious symptoms, with the youngest child being only one year old. We further describe the case of the one-year-old girl brought to the emergency department due to persistent vomiting for two days. We believe that our report makes a significant contribution to the literature because we successfully demonstrated the early diagnosis of a case of GS using family genetic analysis. The early diagnosis and treatment of this condition can help prevent potentially life-threatening conditions.