title: [Genetic disorders of surfactant].
abstract: Lung diseases associated with surfactant metabolism disorders represent a significant but heterogeneous group of rare disorders. Intra-alveolar accumulation of protein related to surfactant dysfunction leads to cough, hypoxemia and radiological diffuse infiltration. Inherited deficiency of pulmonary surfactant protein B (SP-B) was initially described in term newborns who develop severe respiratory failure at birth. More recently, mutations in surfactant protein C (SP-C) or in proteins required for surfactant synthesis such as ATP-binding cassette, sub-family A, member 3 (ABCA3) or NK2 homeobox 1 (NKX2-1) were identified in newborns with respiratory distress but also in children with diffuse infiltrative pneumonia. The aim of this review is to describe the clinical presentation of these diseases but also the diagnostic tools and the treatments options available.
authors.affiliation: Service de pédiatrie, centre hospitalier intercommunal de Créteil, 40, avenue de Verdun, 94000 Créteil, France. ralph.epaud@chicreteil.fr
authors.forename: R
authors.initials: R
authors.lastname: Epaud
authors.forename: L
authors.initials: L
authors.lastname: Jonard
authors.forename: H
authors.initials: H
authors.lastname: Ducou-le-Pointe
authors.forename: C
authors.initials: C
authors.lastname: Delestrain
authors.forename: P
authors.initials: P
authors.lastname: Fanen
authors.forename: L
authors.initials: L
authors.lastname: Guillot
authors.forename: F
authors.initials: F
authors.lastname: Flamein
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D009154:Mutation; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics*
chemical_list: D037661:Pulmonary Surfactant-Associated Proteins