ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn

Anette M Kunig; Thomas A Parker; Lawrence M Nogee; Steven H Abman; John P Kinsella

doi:10.1016/j.jpeds.2007.05.054

ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn

J Pediatr. 2007 Sep;151(3):322-4. doi: 10.1016/j.jpeds.2007.05.054.

Authors

Anette M Kunig¹, Thomas A Parker, Lawrence M Nogee, Steven H Abman, John P Kinsella

Affiliation

¹ Pediatric Heart Lung Center, Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO, USA. anette.kunig@gmail.com

PMID: 17719949
DOI: 10.1016/j.jpeds.2007.05.054

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.

Publication types

Case Reports

MeSH terms

ATP-Binding Cassette Transporters / genetics*
Administration, Inhalation
Bronchodilator Agents / administration & dosage*
Chest Wall Oscillation
Fatal Outcome
Humans
Infant, Newborn
Male
Nitric Oxide / administration & dosage
Persistent Fetal Circulation Syndrome / diagnostic imaging
Persistent Fetal Circulation Syndrome / genetics*
Persistent Fetal Circulation Syndrome / therapy
Radiography
Treatment Failure

Substances

ABCA3 protein, human
ATP-Binding Cassette Transporters
Bronchodilator Agents
Nitric Oxide