title: ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.
abstract: A newborn with persistent pulmonary hypertension (PH) unresponsive to conventional therapies was found to be homozygous for a mutation in the gene encoding adenosine triphosphate binding cassette protein, member A3 (ABCA3). Most causes of PH respond to lung recruitment, inhaled nitric oxide, and hemodynamic support. When PH is prolonged and does not respond to standard therapies, genetic causes of surfactant abnormalities should be considered in the differential diagnosis.
authors.affiliation: Pediatric Heart Lung Center, Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO, USA. anette.kunig@gmail.com
authors.forename: Anette M
authors.initials: AM
authors.lastname: Kunig
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Parker
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nogee
authors.forename: Steven H
authors.initials: SH
authors.lastname: Abman
authors.forename: John P
authors.initials: JP
authors.lastname: Kinsella
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000280:Administration, Inhalation; D001993:Bronchodilator Agents / Q000008:administration & dosage*; D035641:Chest Wall Oscillation; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009569:Nitric Oxide / Q000008:administration & dosage; D010547:Persistent Fetal Circulation Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D011859:Radiography; D017211:Treatment Failure
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D001993:Bronchodilator Agents; D009569:Nitric Oxide