Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency

Yuhui Pang; Xiaoyu Qi; Jiayue Qin; Xiaoran Zhai; Rongxiao Wang; Jianzhu Cao; Na Zhang; Jinxia Liu; JianYing Li; Weihai Wu; Shanshan Wei; Shaofei Zhang; Yaochen Zhang; Yan Yue

doi:10.3389/fimmu.2024.1493398

journal article Open Access Nov 20, 2024

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency

Yuhui Pang Xiaoyu Qi

Jiayue Qin Xiaoran Zhai Rongxiao Wang Jianzhu Cao Na Zhang

Jinxia Liu

JianYing Li

Weihai Wu Shanshan Wei Shaofei Zhang Yaochen Zhang Yan Yue

Frontiers in Immunology Vol. 15 · Frontiers Media SA

View at Publisher Save 10.3389/fimmu.2024.1493398

Abstract

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.

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Published: Nov 20, 2024
Vol/Issue: 15
License: View

Authors

Institute of Nuclear and New Energy Technology, Collaborative Innovation Center of Advanced Nuclear Energy Technology, Key Laboratory of Advanced Reactor Engineering and Safety of Ministry of Education, Tsinghua University, Beijing 100084, China

N

Na Zhang

Department of Biochemistry and Microbiology, University of Victoria, Victoria

J

Jinxia Liu

Department of Civil Engineering, McGill University, Montreal, Quebec H3A 0C3, Canada

Cite This Article

Yuhui Pang, Xiaoyu Qi, Jiayue Qin, et al. (2024). Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency. Frontiers in Immunology, 15. https://doi.org/10.3389/fimmu.2024.1493398

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency

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