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Κυριακή 16 Μαΐου 2021

Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report

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World J Clin Cases. 2021 Apr 26;9(12):2916-2922. doi: 10.12998/wjcc.v9.i12.2916.

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.

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.

PMID:33969077 | PMC:PMC8058671 | DOI:10.12998/wjcc.v9.i12.2916

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