Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.
Turk J Pediatr
; 64(5): 951-955, 2022.
Article
em En
| MEDLINE
| ID: mdl-36305449
ABSTRACT
BACKGROUND:
Pyruvate kinase (PK) deficiency is the most common enzyme abnormality in the glycolytic pathway. Here, we describe two siblings with PK deficiency that mimicked congenital dyserythropoietic anemia (CDA) type I. CASE The siblings were referred to our hospital for evaluation of anemia when they were newborns. Their PK enzyme activities were normal. Their bone marrow aspirations and electron microscopies showed CDA-like findings. A CDA panel with next-generation sequencing showed no mutation. Though their PK enzyme levels were normal, a molecular study of the PKLR gene showed a homozygous variant c.1623G > C (p.Lys541Asn) in exon 12 of our patients.CONCLUSIONS:
Although the diagnosis of pyruvate kinase deficiency is difficult, it can be confused with many other diagnoses. Bone marrow findings of these cases are similar to congenital dyserythropoietic anemia. In patients with normal pyruvate kinase enzyme levels, the diagnosis cannot be excluded and genetic analysis is required.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Metabolismo dos Piruvatos
/
Anemia Diseritropoética Congênita
/
Anemia Hemolítica Congênita não Esferocítica
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2022
Tipo de documento:
Article