Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 16, 2022; 10(17): 5893-5898
Published online Jun 16, 2022. doi: 10.12998/wjcc.v10.i17.5893
Gitelman syndrome: A case report
Shi-Yuan Chen, Ning Jie
Shi-Yuan Chen, Ning Jie, Department of Endocrinology, Longhua Central Hospital, Shenzhen 518110, Guangdong Province, China
Author contributions: Chen SY and Ning J analyzed the data and diagnosed Gitelman syndrome; Chen SY wrote the manuscript; Ning J modified this manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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:
Corresponding author: Ning Jie, MD, Chief Doctor, Department of Endocrinology, Longhua Central Hospital, No. 187 Guanlan Avenue, Shenzhen 518110, Guangdong Province, China.
Received: January 1, 2022
Peer-review started: January 1, 2022
First decision: February 8, 2022
Revised: February 24, 2022
Accepted: April 4, 2022
Article in press: April 4, 2022
Published online: June 16, 2022

Gitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy arising from mutations in the thiazide-sensitive Na-Cl cotransporter gene. Due to its low incidence and lack of awareness, GS can be easily misdiagnosed or missed in diagnosis.


A 24-year-old male presented with > 4 years of repeated limb weakness without any treatment. The previous day, the patient was bitten by ants and showed weakness of the lower limbs. The patient had hypokalemia (1.66-2.83 mmol/L), hypomagnesemia (0.4 mmol/L), hypocalciuria (1.51-2.46 mmol/d), metabolic alkalosis (7.47-7.54), normal blood pressure, and increased activity of aldosterone and plasma renin activity (PRA) (PRA 6.4 and 16.45 ng/mL/h and aldosterone 330.64 and 756.82 pg/mL in the supine and upright position, respectively). In addition, SLCI2A3 gene mutation with GS was diagnosed. Oral and intravenous supplementation with potassium and magnesium was initiated. Serum magnesium returned to 0.48 mmol/L and serum potassium returned to 3.08 mmol/L, alleviating the patient’s fatigue symptoms.


GS should be considered in patients with hypokalemia complicated with hypomagnesemia. Genetic testing is essential to confirm the diagnosis.

Keywords: Gitelman syndrome, Limb weakness, Hypokalemia, Hypomagnesemia, Hypocalciuria, Genetic testing, Case report

Core Tip: Gitelman syndrome (GS) is easily misdiagnosed or missed in diagnosis due to its low incidence and lack of awareness. Herein, we present a rare case of GS in a young man with limb weakness. This case demonstrates that attention should be focused on GS in patients with hypokalemia complicated with hypomagnesemia. Genetic testing is helpful in confirming the diagnosis.