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Rev Pneumol Clin. 2013 Aug;69(4):183-9. doi: 10.1016/j.pneumo.2013.05.002. Epub 2013 Jul 12.

[Lung diseases in children associated with inherited disorders of surfactant metabolism].

[Article in French]

Author information

1
Inserm, U955, équipe 11, 94000 Créteil, France.

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.

TRIAL REGISTRATION:

ClinicalTrials.gov NCT00783978.

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

PMID:
23856024
DOI:
10.1016/j.pneumo.2013.05.002
[Indexed for MEDLINE]

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