title: Genetics of pediatric interstitial lung disease.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. lnogee@jhmi.edu
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nogee
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D002648:Child; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics; D035583:Rare Diseases
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037721:Pulmonary Surfactant-Associated Protein C