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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)322-324
Number of pages3
JournalJournal of Pediatrics
Volume151
Issue number3
DOIs
StatePublished - Sep 1 2007

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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