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Arch Pediatr. 2012 Feb;19(2):212-9. doi: 10.1016/j.arcped.2011.12.004. Epub 2012 Jan 9.

[Genetic disorders of surfactant].

[Article in French]

Author information

1
Service de pédiatrie, centre hospitalier intercommunal de Créteil, 40, avenue de Verdun, 94000 Créteil, France. ralph.epaud@chicreteil.fr

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.

PMID:
22236549
DOI:
10.1016/j.arcped.2011.12.004
[Indexed for MEDLINE]

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