Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2021; 9(33): 10249-10256
Published online Nov 26, 2021. doi: 10.12998/wjcc.v9.i33.10249
Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report
Li-Ling Zhang, Jia-Ru Lin, Ting-Ting Zhu, Qi Liu, Dong-Mei Zhang, Lin-Wang Gan, Ying Li, San-Tao Ou
Li-Ling Zhang, Jia-Ru Lin, Ting-Ting Zhu, Qi Liu, Dong-Mei Zhang, Lin-Wang Gan, Ying Li, San-Tao Ou, Department of Nephrology, the Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China
Author contributions: Zhang LL, Lin JR, Zhu TT and Zhang DM contributed to the study design; Zhang LL, Liu Q, Gan LW and Li Y collected data during the study; Li Y and Ou ST developed the first draft of the manuscript, which was then reviewed and intensively revised by the other authors; all authors read and approved the manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: 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
Received: March 29, 2021
Peer-review started: March 29, 2021
First decision: August 18, 2021
Revised: August 27, 2021
Accepted: September 10, 2021
Article in press: September 10, 2021
Published online: November 26, 2021
Abstract
BACKGROUND

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a progressive chronic disease that is inherited in an autosomal dominant fashion. Symptoms include hyperuricemia, gout, interstitial nephritis, renal cysts, and progressive renal damage that can lead to end-stage renal disease. Mutations in the uromodulin gene (UMOD) characterize the ADTKD-UMOD clinical subtype of this disease. To date, > 100 UMOD mutations have been identified. Early diagnosis of ADTKD-UMOD is important to treat the disease, slow down disease progression, and facilitate the identification of potentially affected family members.

CASE SUMMARY

We report a 40-year-old man harboring a novel heterozygous missense mutation in UMOD (c.554G>T; p. Arg185Leu). The patient had hyperuricemia, gout, and chronic kidney disease. The same mutation was detected in his daughter, aunt and cousin.

CONCLUSION

A single nucleotide substitution in exon 3 of UMOD was responsible for the heterozygous missense mutation (c.554G>T, p.Arg185Leu).

Keywords: 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, and 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.