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CASE REPORT article
Front. Immunol.
Sec. Alloimmunity and Transplantation
Volume 15 - 2024 |
doi: 10.3389/fimmu.2024.1493398
Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency
Provisionally accepted- 1 Shijiazhuang Pingan Hospital, Shijiazhuang, China
- 2 Acornmed Biotechnology Co., Ltd, Beijing, China
- 3 Beijing United Family Women’s and Children’s Hospital, Beijing, China
Pyruvate kinase deficiency (PKD) is an autosomal recessive genetic disease caused by mutations in the PKLR gene. To date, the clinical manifestations of PKD are heterogeneous, ranging from fetal anemia, neonatal jaundice, and severe chronic hemolytic anemia to fully compensated hemolytic anemia. Successful cases of allogeneic hematopoietic stem cell transplantation (allo-HSCT) for PKD have been reported, however, the number of cases is very small, and experiences are very limited.Here, we report two successful cases involving our modified conditioning regimen. This approach is suitable for patients with severe transfusion dependence. In conclusion, for PKD patients with severe transfusion dependence, allo-HSCT is an option and is currently a safe and effective way to completely eliminate the need for transfusions of drugs, such as Mitapivat, or genetic therapies and allow the patient to return to normal life.
Keywords: Pyruvate kinase deficiency, allogeneic hematopoietic stem cell transplantation, Modified conditioning regimen, Severe transfusion dependence, case report
Received: 09 Sep 2024; Accepted: 31 Oct 2024.
Copyright: © 2024 Pang, Qi, Qin, Zhai, Wang, Cao, Zhang, Liu, Li, Wu, Wei, Zhang, Zhang, Zhang and Yue. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Yuhui Pang, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Xiaoyu Qi, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Xiaoran Zhai, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Rongxiao Wang, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Jianzhu Cao, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Na Zhang, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Jinxia Liu, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Jianying Li, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Weihai Wu, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Shanshan Wei, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Jingjing Zhang, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Shaofei Zhang, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Yaochen Zhang, Shijiazhuang Pingan Hospital, Shijiazhuang, China
Yan Yue, Beijing United Family Women’s and Children’s Hospital, Beijing, China
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