PDF(Pubmed)
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.
METHODS: 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.
CONCLUSIONS: Hematopoietic stem cell transplantation could be a substitute for transfusion-dependent PKD.
METHODS: 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.
CONCLUSIONS: Hematopoietic stem cell transplantation could be a substitute for transfusion-dependent PKD.
摘要：
背景：关于遗传变异的理解，病理生理学,与红细胞丙酮酸激酶缺乏症（PKD）相关的并发症已经得到了很大的解释，支持性治疗是目前主要的管理策略。效价管理，包括移植和基因组编辑，提供丙酮酸激酶的替代药物，都在研究中。
方法：我们在此报告一名3岁男孩，患有严重的输血依赖性PKD，通过无关的相同外周血干细胞移植（PBSCT）治愈。PBSCT后通过基因校正将血红蛋白校正至正常水平，无移植相关并发症。
结论：造血干细胞移植可以替代输血依赖性PKD。
方法：我们在此报告一名3岁男孩，患有严重的输血依赖性PKD，通过无关的相同外周血干细胞移植（PBSCT）治愈。PBSCT后通过基因校正将血红蛋白校正至正常水平，无移植相关并发症。
结论：造血干细胞移植可以替代输血依赖性PKD。
