ABCA3 Deficiency Presenting as Persistent Pulmonary Hypertension of the Newborn - 12/08/11
Doi : 10.1016/j.jpeds.2007.05.054
Anette M. Kunig, MD a, ⁎ 
, Thomas A. Parker, MD a, Lawrence M. Nogee, MD b, Steven H. Abman, MD a, John P. Kinsella, MD a
, Thomas A. Parker, MD a, Lawrence M. Nogee, MD b, Steven H. Abman, MD a, John P. Kinsella, MD a a From the Pediatric Heart Lung Center, Department of Pediatrics, University of Colorado Health Sciences Center, The Children’s Hospital, Denver, CO
b Department of Pediatrics, Johns Hopkins Children’s Center, Baltimore, MD.
Reprint requests: Anette M. Kunig, MD, Pediatric Heart Lung Center, University of Colorado School of Medicine and The Children’s Hospital, Pediatrics, Mail Stop 8317, PO Box 6511, Aurora, CO 80045.Résumé |
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.
Le texte complet de cet article est disponible en PDF.Abbreviations : ABCA3, ACD, ECMO, HFOV, iNO, PH, PPHN, RDS, SP
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Vol 151 - N° 3
P. 322-324 - septembre 2007 Retour au numéro
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