ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.
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.
Kunig
Anette M
AM
Pediatric Heart Lung Center, Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO, USA. anette.kunig@gmail.com
Parker
Thomas A
TA
Nogee
Lawrence M
LM
Abman
Steven H
SH
Kinsella
John P
JP
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
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D001993:Bronchodilator Agents; D009569:Nitric Oxide