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
Abstract
BACKGROUND

Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A.

CASE SUMMARY

Herein, we analyzed a four-generation Chinese family. The proband is a 57-year-old woman who was diagnosed with left ventricular hypertrophy and atrial fibrillation 7 years ago. Echocardiography showed an end-diastolic diameter of the interventricular septum of 19.9 mm, left ventricular end-diastolic diameter of 63.1 mm, and moderate-to-severe mitral regurgitation. Cardiac magnetic resonance indicated an enlarged left heart and right atrium, decreased left ventricular systolic and diastolic function, a left ventricular ejection fraction of 20%, and thickening of the left ventricular septum. In March 2019, gene and enzyme activity tests confirmed the diagnosis of FD. Her son was diagnosed with FD after gene and enzyme activity assay, and was prescribed agalsidase-β for enzyme replacement therapy in July 2020. Two sisters of the proband were also diagnosed with FD by genetic testing. Both of them had a history of atrial fibrillation.

CONCLUSION

A novel mutation was identified in a Chinese family with FD, in which the male patient had a low level of enzyme activity, early-onset, and severe organ involvement. Comprehensive analysis of clinical phenotype genetic testing and enzyme activity testing helped in the diagnosis and treatment of this FD family.

Keywords: Lysosomal storage disease; Enzyme activity; Fabry disease; Frameshift deletion; Whole exon sequencing; Case report

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.