title: Pulmonary nodules in a newborn with ATP-binding cassette transporter A3 (ABCA3) mutations.
abstract: Mutations in the gene for adenosine triphosphate-binding cassette transporter A3 (ABCA3) have been reported in infants and children with fatal surfactant deficiency and interstitial lung disease. Previously reported radiographic lung findings include ground-glass opacification, streaky infiltrates, and interstitial septal thickening. We report here the unusual case of a newborn who rapidly developed large rounded masses in the lung soon after birth that then resolved spontaneously by 3 months of age. She was found to be a compound heterozygote for both a known and a novel mutation in the ABCA3 gene. This report underscores the diverse clinical presentation of this condition.
authors.affiliation: Division of Pediatric Pulmonology, University of Utah School of Medicine, Primary Children's Medical Center, 100 N Mario Capecchi Dr, Salt Lake City, UT 84113-1100, USA. derek.uchida@hsc.utah.edu
authors.forename: Derek A
authors.initials: DA
authors.lastname: Uchida
authors.forename: Susan E
authors.initials: SE
authors.lastname: Wert
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nogee
authors.forename: Travis R
authors.initials: TR
authors.lastname: Carroll
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Chatfield
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001344:Autopsy; D001707:Biopsy, Needle; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006612:High-Frequency Ventilation / Q000379:methods; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009154:Mutation; D013902:Radiography, Thoracic; D012127:Respiratory Distress Syndrome, Newborn / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy*; D018570:Risk Assessment; D003074:Solitary Pulmonary Nodule / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D014057:Tomography, X-Ray Computed
chemical_list: D018528:ATP-Binding Cassette Transporters