Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.
Pediatr Int
; 58(9): 930-3, 2016 Sep.
Article
em En
| MEDLINE
| ID: mdl-27601194
ABSTRACT
Diamond-Blackfan anemia (DBA) is a rare congenital disorder characterized by pure erythrocyte aplasia, and approximately 70% of patients carry mutations in the genes encoding ribosomal proteins (RP). Here, we report the case of a male infant with DBA who presented with anemic crisis (hemoglobin [Hb] concentration 1.5 g/dL) at 58 days after birth. On admission, the infant was pale and had tachypnea, but recovered with intensive care, including red blood cell transfusions, and prednisolone. Based on the clinical diagnosis of DBA, the father of the infant had cyclosporine-A-dependent anemia. On analysis of RP genes when the infant was 6 months old, both the infant and the father, but not the mother, were found to harbor a mutation of RPS19 (c.167G > C, p. R56P). Therefore, genetic background search and early neonatal health check-ups are recommended for families with a history of inherited bone marrow failure syndromes.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Ribossômicas
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DNA de Neoplasias
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Mutação de Sentido Incorreto
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Anemia de Diamond-Blackfan
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article