Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD).
Surfactant deficiency and the resultant respiratory distress syndrome (RDS) seen in preterm infants is a major cause of respiratory morbidity in this population. Until recently, the contribution of surfactant to respiratory morbidity in infancy was limited to the neonatal period. It is now recognised that inborn errors of surfactant metabolism leading to surfactant dysfunction account for around 10% of childhood interstitial lung disease (chILD). These abnormalities can be detected by blood sampling for mutation analysis, thereby avoiding the need for lung biopsy in some children with chILD.
McFetridge
Lynne
L
Royal Belfast Hospital for Sick Children, Queens University Belfast, Grosvenor Road, Belfast BT12 6BA, UK.
McMorrow
Aoife
A
Morrison
Patrick J
PJ
Shields
Michael D
MD
D002648:Child; D002675:Child, Preschool; D006801:Humans; D006819:Hyaline Membrane Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D017563:Lung Diseases, Interstitial / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; D011663:Pulmonary Surfactants; D012307:Risk Factors
D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; D011663:Pulmonary Surfactants