Interstitial lung disease in children

Curr Opin Pediatr. 2014 Jun;26(3):320-7. doi: 10.1097/MOP.0000000000000094.


Purpose of review: There has been tremendous progress in the approach to childhood interstitial lung diseases (chILD), with particular recognition that interstitial lung disease (ILD) in infants is often distinct from the forms that occur in older children and adults. Diagnosis is challenging because of the rarity of ILD and the fact that the presenting symptoms of ILD often overlap those of common respiratory disorders. This review summarizes the newly published recommendations for diagnosis and management, and highlights the recent scientific advances in several specific forms of chILD.

Recent findings: Clinical practice guidelines emphasize the role for chest computed tomography, genetic testing, and lung biopsy in the diagnostic evaluation of children with suspected ILD. Recent studies have better defined the characteristics and molecular understanding of several different forms of ILD, including neuroendocrine cell hyperplasia of infancy and ILD, due to mutations in genes affecting surfactant production and metabolism. Despite significant progress, definitive therapies are often lacking.

Summary: chILD encompasses a collection of rare, diffuse lung diseases. Timely recognition of children with suspected ILD and initiation of appropriate diagnostic evaluations will facilitate medical management. Systematic approaches to clinical care and further studies are needed to improve the outcomes of children with these rare disorders.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Child
  • Gene Deletion
  • Humans
  • Lung / diagnostic imaging*
  • Lung / growth & development
  • Lung Diseases, Interstitial / diagnostic imaging*
  • Lung Diseases, Interstitial / genetics
  • Lung Diseases, Interstitial / physiopathology
  • Mutation
  • Nuclear Proteins / genetics
  • Practice Guidelines as Topic
  • Thyroid Nuclear Factor 1
  • Tomography, X-Ray Computed*
  • Transcription Factors / genetics


  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters
  • Nuclear Proteins
  • Thyroid Nuclear Factor 1
  • Transcription Factors