Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration. Journal of Perinatology (2011) 31, 70-72; doi:10.1038/jp.2010.122

Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report

GHIRRI, PAOLO;BOLDRINI, ANTONIO;
2011-01-01

Abstract

Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration. Journal of Perinatology (2011) 31, 70-72; doi:10.1038/jp.2010.122
2011
Ciantelli, M; Ghirri, Paolo; Presi, S; Sigali, E; Vuerich, M; Somaschini, M; Ferrari, M; Boldrini, Antonio; Carrera, P.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/194530
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