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Publication Name World Journal of Clinical Cases
Manuscript ID 66269
Country/Territory China
Category Medicine, General and Internal
Manuscript Type Case Report
Article Title Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report
Manuscript Source Unsolicited Manuscript
All Author List Li-Ling Zhang, Jia-Ru Lin, Ting-Ting Zhu, Qi Liu, Dong-Mei Zhang, Lin-Wang Gan, Ying Li and San-Tao Ou
Funding Agency and Grant Number
Corresponding Author San-Tao Ou, PhD, Doctor, Professor, Department of Nephrology, the Affiliated Hospital of Southwest Medical University, No. 25 Taiping Street, Luzhou 646000, Sichuan Province, China. ousantao@163.com
Key Words Autosomal dominant tubulointerstitial kidney disease; Hyperuricemia; Uromodulin gene; Mutation; Case report
Core Tip Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a progressive chronic disease that is inherited in an autosomal dominant fashion. It can cause multiple organ damage, and even end-stage renal disease. Mutations in the uromodulin gene (UMOD) characterize the ADTKD-UMOD clinical subtype of this disease. We report a novel heterozygous missense mutation in UMOD (c.554G>T; p. Arg185Leu). This mutation has not been previously reported, it can help facilitate the presymptomatic diagnosis of this rare condition, in addition to helping guide genetic counseling and family planning for relatives of affected individuals.
Citation Zhang LL, Lin JR, Zhu TT, Liu Q, Zhang DM, Gan LW, Li Y, Ou ST. Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report. World J Clin Cases 2021; In press
2021-03-29 11:39
Peer-Review Started
2021-03-29 11:46
To Make the First Decision
Return for Revision
2021-08-18 02:00
2021-08-27 04:53
Second Decision
2021-09-09 03:19
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-09-10 09:19
Articles in Press
2021-09-10 09:19
Publication Fee Transferred
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Typeset the Manuscript
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) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
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
Assistant Editor Assistant Editor
Science Editor Jia-Ru Fan
Reviewer Code 03714155, 05758726, 05278701, and 05223442
Editorial Director
Journal Chief Editor
Company Chief Editor Lian-Sheng Ma
Language Editor
Production Editor
Responsible Production Editor
Responsible Science Editor
Proofing Editorial Director Jin-Lei Wang
Proofing Editor-in-Chief Lian-Sheng Ma
Manuscript File 66269_Auto_Edited.docx
Answering Reviewers 66269-Answering reviewers.pdf
Audio Core Tip 66269-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 66269-Conflict-of-interest statement.pdf
Copyright License Agreement 66269-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 66269-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 66269-Language certificate.pdf
Supplementary Material 66269-Supplementary material.pdf
Peer-review Report 66269-Peer-review(s).pdf
Scientific Misconduct Check 66269-Bing-Fan JR-2.png
Scientific Editor Work List 66269-Scientific editor work list.pdf