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
Abstract
BACKGROUND

Alport syndrome (ATS) is a rare hereditary disease caused by mutations in genes such as COL4A3, COL4A4, and COL4A5. ATS involves a spectrum of phenotypes ranging from isolated hematuria that is nonprogressive to progressive renal disease with extrarenal abnormalities. Although ATS can be combined with other diseases or syndromes, ATS combined with lupus nephritis has not been reported before.

CASE SUMMARY

A Chinese family with ATS was recruited for the current study. Clinical characteristics (including findings from renal biopsy) of ATS patients were collected from medical records, and potential causative genes were explored by whole-exome sequencing. A heterozygous substitution in intron 22 of COL4A3 (NM_000091 c.2657-1G>A) was found in the patients, which was further confirmed by quantitative polymerase chain reaction.

CONCLUSION

Heterozygous substitution of a COL4A3 gene splice site was identified by whole-exome sequencing, revealing the molecular pathogenic basis of this disorder. In general, identification of pathogenic genes can help to fully understand the molecular mechanism of disease and facilitate precise treatment.

Keywords: Alport syndrome; Lupus nephritis; COL4A3; Whole-exome sequencing; Splice site; Case report

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.