Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 26, 2020; 8(18): 4252-4258
Published online Sep 26, 2020. doi: 10.12998/wjcc.v8.i18.4252
Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report
Ri-Zhen Yu, Mao-Sheng Chen
Ri-Zhen Yu, Mao-Sheng Chen, Department of Nephrology Division, Zhejiang Provincial People’s Hospital, People’s Hospital of Hangzhou Medical College, Hangzhou 310014, Zhejiang Province, China
Author contributions: Yu RZ performed patient record management, literature review and drafted the manuscript; Chen MS treated the patient, organized this study, reviewed clinical and laboratory data, and offered constructive suggestions. All authors have read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 81700649.
Informed consent statement: The patient signed an informed consent to participate in this study and to allow us to publish the results of the study.
Conflict-of-interest statement: All authors have declared that they have no conflict of interest relevant to this work.
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: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Mao-Sheng Chen, MD, PhD, Assistant Professor, Doctor, Department of Nephrology Division, Zhejiang Provincial People’s Hospital, People’s Hospital of Hangzhou Medical College, No. 158 Shangtang Road, Hangzhou 310014, Zhejiang Province, China. maoshengc@126.com
Received: February 25, 2020
Peer-review started: February 25, 2020
First decision: July 4, 2020
Revised: July 18, 2020
Accepted: August 14, 2020
Article in press: August 14, 2020
Published online: September 26, 2020
Processing time: 209 Days and 12.1 Hours
Abstract
BACKGROUND

Gitelman syndrome (GS) is an unusual, autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is caused by mutations in the solute carrier family 12 member 3 (SLC12A3) gene resulting in disordered function of the thiazide-sensitive NaCl co-transporter. To date, many types of mutations in the SLC12A3 gene have been discovered that trigger different clinical manifestations. Therefore, gene sequencing should be considered before determining the course of treatment for GS patients.

CASE SUMMARY

A 55-year-old man was admitted to our department due to hand numbness and fatigue. Laboratory tests after admission showed hypokalemia, metabolic alkalosis and renal failure, all of which suggested a diagnosis of GS. Genome sequencing of DNA extracted from the patient’s peripheral blood showed a rare homozygous mutation in the SLC12A3 gene (NM_000339.2: chr16:56903671, Exon4, c.536T>A, p.Val179Asp). This study reports a rare homozygous mutation in SLC12A3 gene of a Chinese patient with GS.

CONCLUSION

Genetic studies may improve the diagnostic accuracy of Gitelman syndrome and improve genetic counseling for individuals and their families with these types of genetic disorders

Keywords: Gitelman syndrome; Hypokalemia; SLC12A3; Homozygous; Rare mutation; Case report

Core Tip: In this manuscript, we report a patient with severe hypokalemia who was diagnosed with Gitelman syndrome by genome sequencing. We found a relatively unusual homozygous mutation in the SLC12A3 gene, which has been rarely reported previously. This patient also had elevated creatinine, different to the general Gitelman syndrome, suggesting that some factors, including this type of mutation, may cause renal impairment.