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.2010.122I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.