Ma ZY, Yang X. Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report. World J Clin Cases 2021; 9(12): 2916-2922 [PMID: 33969077 DOI: 10.12998/wjcc.v9.i12.2916]
Corresponding Author of This Article
Xue Yang, MS, Doctor, Department of Pediatrics, Key Laboratory of Birth Defects and Related Diseases of Women and Children, West China Second University Hospital, Sichuan University, No. 20 Section 3, Renmin South Road, Chengdu 610041, Sichuan Province, China. xueyang@scu.edu.cn
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
World J Clin Cases. Apr 26, 2021; 9(12): 2916-2922 Published online Apr 26, 2021. doi: 10.12998/wjcc.v9.i12.2916
Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report
Zhong-Yang Ma, Xue Yang
Zhong-Yang Ma, Xue Yang, Department of Pediatrics, Key Laboratory of Birth Defects and Related Diseases of Women and Children, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Author contributions: Yang X conceived and coordinated the study, designed, performed, and analyzed the experiments, and wrote the paper; Ma ZY carried out the data collection and analysis, and revised the paper; all authors reviewed the results and approved the final version of the manuscript.
Informed consent statement: Informed written consent was obtained from the patient’s parents for publication of this report.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to report.
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: Xue Yang, MS, Doctor, Department of Pediatrics, Key Laboratory of Birth Defects and Related Diseases of Women and Children, West China Second University Hospital, Sichuan University, No. 20 Section 3, Renmin South Road, Chengdu 610041, Sichuan Province, China. xueyang@scu.edu.cn
Received: December 14, 2020 Peer-review started: December 14, 2020 First decision: January 7, 2021 Revised: January 21, 2021 Accepted: February 24, 2021 Article in press: February 24, 2021 Published online: April 26, 2021 Processing time: 121 Days and 22.4 Hours
Abstract
BACKGROUND
The understanding regarding genetic variation, pathophysiology, and complications associated with pyruvate kinase deficiency (PKD) in red blood cells has been explained largely, and supportive treatment is currently the main management strategy. Etiotropic managements, including transplantation and genome editing, supplying for substitute dugs of the pyruvate kinase, are all under research.
CASE SUMMARY
We herein report a 3-year-old boy with severe transfusion-dependent PKD cured by unrelated identical peripheral blood stem cell transplantation (PBSCT). Hemoglobin was corrected to a normal level by gene correction after PBSCT, with no complication related to the transplantation.
CONCLUSION
Hematopoietic stem cell transplantation could be a substitute for transfusion-dependent PKD.
Core Tip: We herein report a 3-year-old boy with severe transfusion-dependent pyruvate kinase deficiency (PKD) cured by unrelated identical peripheral blood stem cell transplantation. Hematopoietic stem cell transplantation could be a substitute for severe transfusion-dependent PKD, and should be carried out in the early stage of life. If there are no identical siblings available, unrelated identical peripheral blood stem cells might also be an alternative option.
