Genetics of pediatric interstitial lung disease

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations


Purpose of review: The interstitial lung diseases are a heterogeneous group of rare disorders of largely unknown etiology. The occurrence of familial cases of pediatric interstitial lung diseases with the onset of symptoms developing early in infancy has suggested a genetic basis for some forms of interstitial lung diseases in children. Recent findings: Mutations in the genes encoding surfactant protein C, SFTPC, and a member of the adenosine triphosphate-binding cassette family of proteins, ABCA3, have been shown to result in pediatric interstitial lung diseases inherited in autosomal-dominant and autosomal-recessive patterns, respectively. There is overlap in both the clinical and histopathologic features of these disorders. Summary: Identification of genes responsible for pediatric interstitial lung diseases provides the opportunity for noninvasive testing to establish an etiologic diagnosis, to counsel family members for their recurrence risk, and to classify these rare disorders more accurately. A better understanding of the cause and pathophysiology of these disorders may provide additional insights into the causes of other forms of pediatric interstitial lung diseases, and may suggest novel treatment approaches.

Original languageEnglish (US)
Pages (from-to)287-292
Number of pages6
JournalCurrent opinion in pediatrics
Issue number3
StatePublished - 2006


  • Adenosine triphosphate-binding cassette protein
  • Interstitial pneumonitis
  • Pulmonary surfactant
  • Respiratory distress syndrome
  • Surfactant protein C

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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