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Pediatrics. 2011 May;127(5):e1347-51. doi: 10.1542/peds.2010-1477. Epub 2011 Apr 4.

Pulmonary nodules in a newborn with ATP-binding cassette transporter A3 (ABCA3) mutations.

Author information

1
Division of Pediatric Pulmonology, University of Utah School of Medicine, Primary Children's Medical Center, 100 N Mario Capecchi Dr, Salt Lake City, UT 84113-1100, USA. derek.uchida@hsc.utah.edu

Abstract

Mutations in the gene for adenosine triphosphate-binding cassette transporter A3 (ABCA3) have been reported in infants and children with fatal surfactant deficiency and interstitial lung disease. Previously reported radiographic lung findings include ground-glass opacification, streaky infiltrates, and interstitial septal thickening. We report here the unusual case of a newborn who rapidly developed large rounded masses in the lung soon after birth that then resolved spontaneously by 3 months of age. She was found to be a compound heterozygote for both a known and a novel mutation in the ABCA3 gene. This report underscores the diverse clinical presentation of this condition.

PMID:
21464189
DOI:
10.1542/peds.2010-1477
[Indexed for MEDLINE]
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