Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2021; 9(18): 4721-4727
Published online Jun 26, 2021. doi: 10.12998/wjcc.v9.i18.4721
Alport syndrome combined with lupus nephritis in a Chinese family: A case report
Hui-Fang Liu, Qing Li, You-Qun Peng
Hui-Fang Liu, Qing Li, You-Qun Peng, Department of Nephrology, Traditional Chinese Medicine Hospital of Jiulongpo District, Chongqing 400050, China
Author contributions: Liu HF, Li Q and Peng YQ performed the diagnostic investigations and treatments; Liu HF and Li Q reviewed the literature and contributed to manuscript drafting; Peng YQ revised the manuscript; all authors issued final approval for the version to be submitted.
Supported by the Science and Technology Bureau of Jiulongpo District in Chongqing, No. 2019-02-027-D.
Informed consent statement: Informed written consent was obtained from the patient or their guardians.
Conflict-of-interest statement: The authors declare that there is no conflict of interest regarding the publication of this manuscript.
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: You-Qun Peng, PhD, Professor, Department of Nephrology, Traditional Chinese Medicine Hospital of Jiulongpo District, No. 160 Yuquancun Street, Jiulongpo District, Chongqing 400050, China. 376452999@qq.com
Received: September 8, 2020
Peer-review started: September 8, 2020
First decision: January 24, 2021
Revised: January 27, 2021
Accepted: April 19, 2021
Article in press: April 19, 2021
Published online: June 26, 2021
Processing time: 270 Days and 7.8 Hours
Core Tip

Core Tip: Alport syndrome is a hereditary nephropathy that can be combined with other diseases or syndromes. We present the case of a 33-year-old man who was initially diagnosed with lupus nephritis but further diagnosed with Alport syndrome after genetic testing. He achieved complete remission after treatment with hormones and immunosuppressive agents. A variant of the splice site of intron 22 in the COL4A3 gene that cosegregated with the phenotype in the pedigree was identified by whole-exome sequencing.