[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.

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.