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A pyruvate kinase deficiency child with novel PK-LR gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation.
- Source :
-
Pediatric transplantation [Pediatr Transplant] 2021 Nov; Vol. 25 (7), pp. e14078. Date of Electronic Publication: 2021 Jul 13. - Publication Year :
- 2021
-
Abstract
- Background: Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by a PK-LR gene mutation. Allogeneic hematopoietic cell transplantation (HCT) is an effective cure for PKD. However, the experience of applying HCT in PKD is limited.<br />Methods: We present a child with novel PK-LR gene mutations who was successfully cured by matched unrelated donor peripheral blood stem cell transplantation (MUD-PBSCT).<br />Results: A 4-year-old, male patient suffered severe hemolytic anemia and jaundice 5 h after birth. Gene sequencing showed that the pyruvate kinase-liver and RBC (PK-LR) gene had a nonsense mutation in exon 5: c.602G>A (p.W201X), and large deletions in exons 3-9. Both of them were novel pathogenic mutations of the PK-LR gene. After transplantation, the hemoglobin level became normal and the nonsense mutation was undetectable. Grade Ⅳ acute graft-versus-host disease (aGVHD) and extensive chronic graft-versus-host disease (cGVHD) occurred in the patient. However, the GVHD was controlled effectively. The patient is alive and has good quality of life 22 months post-transplant, but has mild oral lichen planus-like lesion.<br />Conclusion: Gene sequencing contributes to the diagnosis of PKD. HCT is an effective method for curing PKD, but we should explore how to reduce severe GVHD.<br /> (© 2021 Wiley Periodicals LLC.)
Details
- Language :
- English
- ISSN :
- 1399-3046
- Volume :
- 25
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Pediatric transplantation
- Publication Type :
- Academic Journal
- Accession number :
- 34255916
- Full Text :
- https://doi.org/10.1111/petr.14078