title: [Lung diseases in children associated with inherited disorders of surfactant metabolism].
abstract: Pulmonary surfactant is a unique mixture of lipids and specific proteins that reduces surface tension at the air-liquid interface, preventing collapse of the lung at the end of expiration. Recessive loss-of-function mutations of pulmonary surfactant protein B (SP-B) was initially described in infants who develop respiratory failure at birth. More recently, mutations in other constitutive surfactant proteins like surfactant protein C or implied in its metabolism like ATP-binding cassette, sub-family A, member 3 (ABCA3) or NK2 homeobox (NKX2-1) were identified in newborn with respiratory distress but also in children with diffuse infiltrative pneumonia. Intra-alveolar accumulation of protein related to surfactant dysfunction leads to cough, hypoxemia and radiological abnormalities including ground-glass opacities and lung cysts. The clinical and radiological features associated with these genetic disorders, along with their treatment and outcome, are reviewed.
authors.affiliation: Inserm, U955, équipe 11, 94000 Créteil, France.
authors.forename: C
authors.initials: C
authors.lastname: Delestrain
authors.forename: F
authors.initials: F
authors.lastname: Flamein
authors.forename: L
authors.initials: L
authors.lastname: Jonard
authors.forename: R
authors.initials: R
authors.lastname: Couderc
authors.forename: L
authors.initials: L
authors.lastname: Guillot
authors.forename: P
authors.initials: P
authors.lastname: Fanen
authors.forename: R
authors.initials: R
authors.lastname: Epaud
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008171:Lung Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy; D017563:Lung Diseases, Interstitial / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
keywords: ABCA3; Détresse respiratoire; NKX2-1; Protéine B du surfactant; Protéine C du surfactant ABCA3; Respiratory distress; Surfactant; Surfactant protein; Surfactant protein B; Surfactant protein C