title: Interstitial lung disease in newborns.
abstract: The term 'interstitial lung disease' (ILD) refers to a group of disorders involving both the airspaces and tissue compartments of the lung, and these disorders are more accurately termed diffuse lung diseases. Although rare, they are associated with significant morbidity and mortality, with the prognosis depending upon the specific diagnosis. The major categories of ILD in children that present in the neonatal period include developmental disorders, growth disorders, surfactant dysfunction disorders, and specific conditions of unknown etiology unique to infancy. Whereas lung histopathology has been the gold standard for the diagnosis of ILD, as many of the disorders have a genetic basis, non-invasive diagnosis is feasible, and characteristic clinical and imaging features may allow for specific diagnosis in some circumstances. The underlying mechanisms, clinical, imaging, and lung pathology features and outcomes of ILD presenting in newborns are reviewed with an emphasis on genetic mechanisms and diagnosis.
authors.affiliation: Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: lnogee@jhmi.edu.
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nogee
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D003131:Combined Modality Therapy / Q000639:trends; D003937:Diagnosis, Differential; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017563:Lung Diseases, Interstitial / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D009154:Mutation; D017410:Practice Guidelines as Topic; D011379:Prognosis; D011649:Pulmonary Alveolar Proteinosis / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; C098521:FOXF1 protein, human; D051858:Forkhead Transcription Factors; D020825:T-Box Domain Proteins; C491193:TBX4 protein, human; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: Alveolar capillary dysplasia; Genetic basis of disease; Lung development; Mutation; Neuroendocrine cell hyperplasia of infancy; Surfactant