title: [Lung diseases associated with inherited disorders of surfactant metabolism].
abstract: Lung diseases associated with surfactant-metabolism disorders are a heterogeneous group of rare diseases. 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 infants who develop respiratory failure at birth. More recently, mutations in other constitutive surfactant proteins, such as surfactant protein C or implied in its metabolism, such as ATP-binding cassette, subfamily A, member 3 (ABCA3) and thyroid transcription factor 1 (TTF-1) were identified in newborns with respiratory distress as well as in children with chronic-infiltrative pneumonia. The aim of this review is therefore to summarize the current state of our knowledge in this area.
authors.affiliation: Pneumologie pédiatrique, hôpital Armand-Trousseau, AP-HP, université Pierre-et-Marie-Curie Paris-6, 75571 Paris, France. ralph.epaud@trs.aphp.fr
authors.forename: R
authors.initials: R
authors.lastname: Epaud
authors.forename: D
authors.initials: D
authors.lastname: Feldmann
authors.forename: L
authors.initials: L
authors.lastname: Guillot
authors.forename: A
authors.initials: A
authors.lastname: Clément
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008171:Lung Diseases / Q000235:genetics* / Q000378:metabolism; D037661:Pulmonary Surfactant-Associated Proteins / Q000172:deficiency* / Q000235:genetics*; D014157:Transcription Factors
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D004268:DNA-Binding Proteins; D037661:Pulmonary Surfactant-Associated Proteins; C504003:TTF1 protein, human; D014157:Transcription Factors