ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 17719949.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- ATP-Binding Cassette Transporters
- Bronchodilator Agents
- Persistent Fetal Circulation Syndrome