Genetic disorders of surfactant dysfunction are a rare cause of chronic, progressive or
refractory respiratory failure in term and preterm infants. This review explores genetic …

At least 10% of patients with interstitial lung disease present monogenic lung fibrosis
suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of …

ATP-binding cassette class A3 (ABCA3) is a lipid transporter that plays a critical role in
pulmonary surfactant function. The substitution of valine for glutamic acid at codon 292 …

Adaptation to respiration at birth depends upon the synthesis of pulmonary surfactant, a lipid-
protein complex that reduces surface tension at the air-liquid interface in the alveoli and …

Mutations in the ATP-binding cassette transporter A3 gene (ABCA3) result in severe
neonatal respiratory distress syndrome and childhood interstitial lung disease. As most …

Childhood interstitial lung disease (chILD) comprises a spectrum of rare diffuse lung
disorders. chILD is heterogeneous in origin, with different disease manifestations occurring …

Childhood interstitial lung disease (chILD) comprises a large and heterogeneous group of
rare disorders characterized by diffuse pulmonary infiltrates, restrictive lung physiology, and …

Idiopathic pulmonary fibrosis (IPF) is a chronic, rare progressive lung disease, characterized
by lung scarring and the irreversible loss of lung function. Two anti-fibrotic drugs, nintedanib …

ATP-binding cassette subfamily A member 3 (ABCA3) is a lipid transporter within alveolar
type II cells. Patients with bi-allelic variants in ABCA3 may suffer from a variable severity of …

Pulmonary alveolar proteinosis (PAP) is an umbrella term for a wide spectrum of conditions
that have a very characteristic appearance on computed tomography. There is outlining of …