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9/22/2020 3:17:14 AM | Browse: 477 | Download: 612
Publication Name World Journal of Clinical Cases
Manuscript ID 54879
Country/Territory China
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
Publish the Manuscript Online
2020-09-22 03:17
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/
Copyright © The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
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
ORCID
Author(s) ORCID Number
Ri-Zhen Yu http://orcid.org/0000-0001-5189-3636
Mao-Sheng Chen http://orcid.org/0000-0002-3344-1393
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.
Publish Date 2020-09-22 03:17
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
URL https://www.wjgnet.com/2307-8960/full/v8/i18/4252.htm
DOI https://dx.doi.org/10.12998/wjcc.v8.i18.4252
Full Article (PDF) WJCC-8-4252.pdf
Full Article (Word) WJCC-8-4252.docx
CARE Checklist–2016 54879-CARE-Checklist–2016-revision.pdf
Manuscript File 54879-Review-Webster J.docx
Answering Reviewers 54879-Answering reviewers.pdf
Audio Core Tip 54879-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 54879-Conflict-of-interest statement.pdf
Copyright License Agreement 54879-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 54879-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 54879-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 54879-Language certificate.pdf
Peer-review Report 54879-Peer-review(s).pdf
Scientific Misconduct Check 54879-Bing-Wang JL-1.jpg
Scientific Misconduct Check 54879-Scientific misconduct check.pdf
Scientific Editor Work List 54879-Scientific editor work list.pdf