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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
Yuhui Pang Yuhui Pang 1*Xiaoyu Qi Xiaoyu Qi 1*Jiayue Qin Jiayue Qin 2Xiaoran Zhai Xiaoran Zhai 1*Rongxiao Wang Rongxiao Wang 1*Jianzhu Cao Jianzhu Cao 1*Na Zhang Na Zhang 1*Jinxia Liu Jinxia Liu 1*Jianying Li Jianying Li 1*Weihai Wu Weihai Wu 1*Shanshan Wei Shanshan Wei 1*Jingjing Zhang Jingjing Zhang 1*Shaofei Zhang Shaofei Zhang 1*Yaochen Zhang Yaochen Zhang 1*Yan Yue Yan Yue 3*
  • 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

The final, formatted version of the article will be published soon.

    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

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.