Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 21, 2022; 10(3): 1067-1076
Published online Jan 21, 2022. doi: 10.12998/wjcc.v10.i3.1067
Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report
An-Yi Fu, Qi-Zhi Jin, Ya-Xun Sun
An-Yi Fu, Ya-Xun Sun, Department of Clinical Medicine, Zhejiang University, Hangzhou 310058, Zhejiang Province, China
An-Yi Fu, Qi-Zhi Jin, Department of Cardiology, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People’s Hospital, Quzhou 325035, Zhejiang Province, China
Ya-Xun Sun, Department of Cardiology, Sir Run Run Shaw Hospital, Clinical Medicine of Zhejiang University, Hangzhou 310016, Zhejiang Province, China
Author contributions: Fu AY and Sun YX carried out the studies, participated in collecting the data, and drafted the manuscript; Fu AY and Jin QZ performed the statistical analysis and participated in its design; Sun YX and Jin QZ helped to draft the manuscript; all authors read and approved the final manuscript.
Supported by Key Research and Development Program of Zhejiang Province, No. 2019C03022.
Informed consent statement: Informed written consent was obtained from the patient for publication of this case report and 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ya-Xun Sun, MD, Doctor, Department of Cardiology, Sir Run Run Shaw Hospital, Clinical Medicine of Zhejiang University, No. 3 Qingchun East Road, Shangcheng District, Hangzhou 310016, Zhejiang Province, China. sunyaxun@zju.edu.cn
Received: June 22, 2021
Peer-review started: June 22, 2021
First decision: July 26, 2021
Revised: August 9, 2021
Accepted: December 23, 2021
Article in press: December 23, 2021
Published online: January 21, 2022
Processing time: 207 Days and 4 Hours
Core Tip

Core Tip: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A. We present herein a case of novel mutation (348delG:p.G116fs) in exon 2 in a Chinese FD family. Time delay in the diagnosis was 6 years. The proband died of respiratory circulatory failure. The son of the proband had a low level of enzyme activity, early-onset, and severe organ involvement. He was prescribed agalsidase-β for enzyme replacement therapy to delay progression of the disease. This case highlights that clinical phenotype, gene detection, and enzyme activity results should be analyzed comprehensively for patients suspected of having FD.