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8/13/2020 9:18:23 PM | Browse: 83 | Download: 177
Publication Name World Journal of Clinical Cases
Manuscript ID 54879
Country China
Category Urology & Nephrology
Manuscript Type Case Report
Article Title Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report
Manuscript Source Unsolicited Manuscript
All Author List Ri-Zhen Yu and Mao-Sheng Chen
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 81700649
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, Zhenjiang Province, China. maoshengc@126.com
Key Words Gitelman syndrome; Hypoaclemia; SLC12A3; Homozygous; Rare mutation; Case report
Core Tip In this manuscript, we reported a case of a patient with severe hypokalemia and diagnosed with Gitelman syndrome by genome sequencing. We found a relatively unusual homozygous mutation in the SLC12A3 gene, which had been rarely reported previously. Besides, this patient had elevated creatinine, different from general Gitelman syndrome, suggesting some factors, including this kind of mutation, might cause renal impairment.
Citation Yu RZ, Chen MS. Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report. World J Clin Cases 2020; 8(18): 4252-4258
Received
2020-02-25 15:13
Peer-Review Started
2020-02-25 15:16
To Make the First Decision
Return for Revision
2020-07-04 01:12
Revised
2020-07-18 16:14
Second Decision
2020-08-13 10:36
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2020-08-13 21:18
Articles in Press
2020-08-13 21:18
Publication Fee Transferred
Edit the Manuscript by Language Editor
2020-08-25 05:50
Typeset the Manuscript
2020-09-15 17:02
ISSN 2307-8960 (online)
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/
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