ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.

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… (More)

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@article{Kunig2007ABCA3DP, title={ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.}, author={Anette M Kunig and Thomas A. Parker and Lawrence M. Nogee and Steven H Abman and John Kinsella}, journal={The Journal of pediatrics}, year={2007}, volume={151 3}, pages={322-4} }