Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

• Autor(es): Gonçalves, JP ; Pinheiro, L ; Costa, M ; Silva, A ; Gonçalves, A ; Pereira, A
• Data: 2014
• Identificador Persistente: http://hdl.handle.net/10400.23/556
• Origem: Repositório Científico do Hospital de Braga
• Assunto(s): Transportadores de Cassetes de Ligação de ATP; Doença da Membrana Hialina; Recém-Nascido; Proteína ABCA3; Síndrome de Dificuldade Respiratória do Recém-Nascido
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.