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Published on: March 6, 2019

ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease

Janine E Bullard1, Susan E Wert, Lawrence M Nogee

  • 1Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Seminars in Perinatology
|December 5, 2006
PubMed

Insights

Mutations in the ABCA3 gene cause severe neonatal respiratory disease and interstitial lung disease in children. This review covers clinical, genetic, and pathologic features of ABCA3-related lung disease.

Area of Science:

  • Biochemistry
  • Genetics
  • Pulmonology

Background:

  • ABCA3 is an ATP Binding Cassette transporter protein.
  • ABCA3 mutations are linked to severe neonatal respiratory disease.
  • ABCA3 mutations are also associated with childhood interstitial lung disease.

Purpose of the Study:

  • To review clinical, genetic, and pathologic features of ABCA3-related lung disease.
  • To discuss other childhood interstitial lung diseases with neonatal antecedents and potential genetic bases.

Main Methods:

  • Literature review of ABCA3 gene mutations and associated lung diseases.
  • Summary of clinical presentations, genetic findings, and pathology.
  • Comparative review of other neonatal-onset childhood interstitial lung diseases.

Main Results:

  • ABCA3 mutations present with diverse respiratory phenotypes in neonates and older children.
  • Specific mutations correlate with distinct clinical and pathological findings.
  • Genetic factors play a significant role in various childhood interstitial lung diseases.

Conclusions:

  • ABCA3 mutations are a significant cause of inherited lung disease in children.
  • Understanding ABCA3's role is crucial for diagnosing and managing pediatric lung conditions.
  • Further research into genetic lung diseases in neonates is warranted.

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