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©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2023; 11(25): 5947-5953
Published online Sep 6, 2023. doi: 10.12998/wjcc.v11.i25.5947
Published online Sep 6, 2023. doi: 10.12998/wjcc.v11.i25.5947
Novel COL4A3 synonymous mutation causes Alport syndrome coexistent with immunoglobulin A nephropathy in a woman: A case report
Yu-Ting Chen, Wen-Ze Jiang, The First Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang Province, China
Ke-Da Lu, Department of Nephrology, The Third Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou 310005, Zhejiang Province, China
Author contributions: Chen YT contributed to manuscript writing and editing, and data collection; Jiang WZ contributed to data analysis; Lu KD contributed to conceptualization and supervision; all authors have read and approve the final manuscript.
Supported by The Major Project of Zhejiang Administration of Traditional Chinese Medicine , No. 2020ZZ008 .
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 to disclose.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ke-Da Lu, MD, Doctor, Professor, Department of Nephrology, The Third Affiliated Hospital of Zhejiang Chinese Medical University, No. 219 Moganshan Road, Xihu District, Hangzhou 310005, Zhejiang Province, China. lukedaq@126.com
Received: June 6, 2023
Peer-review started: June 6, 2023
First decision: July 17, 2023
Revised: July 31, 2023
Accepted: August 8, 2023
Article in press: August 8, 2023
Published online: September 6, 2023
Peer-review started: June 6, 2023
First decision: July 17, 2023
Revised: July 31, 2023
Accepted: August 8, 2023
Article in press: August 8, 2023
Published online: September 6, 2023
Core Tip
Core Tip: It is challenging to distinguish between Alport syndrome (AS) and immunoglobulin A (IgA) nephropathy solely based on clinical and pathological findings. This report highlights the diagnostic value of whole-exome sequencing in the precise diagnosis of AS and emphasizes the significance of renal biopsy and genetic detection in the early diagnosis of AS and familial IgA nephropathy.