Background: There is growing recognition and understanding of the entities that cause
interstitial lung disease (ILD) in infants. These entities are distinct from those that cause ILD …

Genetic predisposition to pulmonary fibrosis has been confirmed by the discovery of several
gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial …

In acquired pulmonary alveolar proteinosis, lipids and proteins accumulate within the alveoli
because alveolar macrophages cannot catabolize surfactants. Surprisingly, alveolar …

Rationale: Considerable confusion exists regarding nomenclature, classification, and
management of pediatric diffuse lung diseases due to the relative rarity and differences in …

Pulmonary alveolar proteinosis (PAP) is a syndrome characterized by the accumulation of
alveolar surfactant and dysfunction of alveolar macrophages. PAP results in progressive …

Rationale: Familial clustering of adult idiopathic interstitial pneumonias (IIP) suggests that
genetic factors might play an important role in disease development. Mutations in the gene …

Mutations in the genes encoding the surfactant proteins B and C (SP-B and SP-C) and the
phospholipid transporter, ABCA3, are associated with respiratory distress and interstitial …

Epithelial cell dysfunction is postulated as an important component in the pathogenesis of
idiopathic pulmonary fibrosis (IPF). Mutations in the surfactant protein C (SP-C) gene …

Background: Mutations in the ABCA3 gene can result in fatal surfactant deficiency in term
newborn infants and chronic interstitial lung disease in older children. Previous studies on …

Monogenic lung diseases that are caused by mutations in surfactant genes of the pulmonary
epithelium are marked by perinatal lethal respiratory failure or chronic diffuse parenchymal …