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

Derek A. Uchida, Susan E. Wert, Lawrence Nogee, Travis R. Carroll, Barbara A. Chatfield

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalPediatrics
Volume127
Issue number5
DOIs
StatePublished - May 2011

Fingerprint

ATP-Binding Cassette Transporters
Newborn Infant
Lung
Mutation
Interstitial Lung Diseases
Heterozygote
Surface-Active Agents
Genes
Glass
Adenosine Triphosphate
Parturition

Keywords

  • ABCA3
  • Neonatal respiratory
  • Surfactant

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Pulmonary nodules in a newborn with ATP-binding cassette transporter A3 (ABCA3) mutations. / Uchida, Derek A.; Wert, Susan E.; Nogee, Lawrence; Carroll, Travis R.; Chatfield, Barbara A.

In: Pediatrics, Vol. 127, No. 5, 05.2011.

Research output: Contribution to journalArticle

Uchida, Derek A. ; Wert, Susan E. ; Nogee, Lawrence ; Carroll, Travis R. ; Chatfield, Barbara A. / Pulmonary nodules in a newborn with ATP-binding cassette transporter A3 (ABCA3) mutations. In: Pediatrics. 2011 ; Vol. 127, No. 5.
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