BPG is committed to discovery and dissemination of knowledge
Articles in Press
9/10/2021 9:19:53 AM | Browse: 111 | Download: 198
Publication Name World Journal of Clinical Cases
Manuscript ID 66269
Country/Territory China
Category Medicine, General & 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; 9(33): 10249-10256
Received
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
Revised
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
Edit the Manuscript by Language Editor
2021-10-09 12:44
Typeset the Manuscript
2021-11-15 01:31
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