CB04.2
Disorders of surfactant metabolism
Transtornos do metabolismo do surfactante
CategoryDefinition
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation
Index Terms
Disorders of surfactant metabolismChronic lung disease with surfactant disorderLate onset surfactant deficiencyNeonatal acute respiratory distress with surfactant disorderSurfactant protein B (SP-B) deficiencySurfactant ABCA3 gene mutationSurfactant protein C gene mutation