title: Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
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.
authors.affiliation: Division of Neonatology, University of Pisa, Santa Chiara Hospital, Pisa, Italy. m.ciantelli@libero.it
authors.forename: M
authors.initials: M
authors.lastname: Ciantelli
authors.forename: P
authors.initials: P
authors.lastname: Ghirri
authors.forename: S
authors.initials: S
authors.lastname: Presi
authors.forename: E
authors.initials: E
authors.lastname: Sigali
authors.forename: M
authors.initials: M
authors.lastname: Vuerich
authors.forename: M
authors.initials: M
authors.lastname: Somaschini
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: A
authors.initials: A
authors.lastname: Boldrini
authors.forename: P
authors.initials: P
authors.lastname: Carrera
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D045422:Continuous Positive Airway Pressure; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D013902:Radiography, Thoracic; D012008:Recurrence; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics; D012131:Respiratory Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D019233:Retreatment; D014057:Tomography, X-Ray Computed; D017211:Treatment Failure
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters