A pyruvate kinase deficiency child with novel PK-LR gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation.
Pediatr Transplant
; 25(7): e14078, 2021 Nov.
Article
em En
| MEDLINE
| ID: mdl-34255916
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. 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). 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 â
£ 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. 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.
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Base de dados:
MEDLINE
Assunto principal:
Piruvato Quinase
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Erros Inatos do Metabolismo dos Piruvatos
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Transplante de Células-Tronco de Sangue Periférico
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Anemia Hemolítica Congênita não Esferocítica
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article