一名3岁先天性丙酮酸激酶缺乏症男孩的异基因造血干细胞移植：病例报告。
Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report.
作者信息
Ma Zhong-Yang, Yang Xue
机构信息
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.
出版信息
World J Clin Cases. 2021 Apr 26;9(12):2916-2922. doi: 10.12998/wjcc.v9.i12.2916.
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.
背景
关于红细胞丙酮酸激酶缺乏症（PKD）的遗传变异、病理生理学及并发症的认识已得到很大程度的阐释，目前支持性治疗是主要的管理策略。针对病因的治疗方法，包括移植和基因组编辑，以及丙酮酸激酶替代药物的供应，均在研究中。
病例摘要
我们在此报告一名3岁严重依赖输血的PKD男孩，通过非亲缘同基因外周血干细胞移植（PBSCT）治愈。PBSCT后通过基因校正使血红蛋白恢复到正常水平，且无移植相关并发症。
结论
造血干细胞移植可替代依赖输血的PKD。
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