Introduction Patients with interstitial lung disease (ILD) secondary to telomere biology
disorders (TBD) experience increased morbidity after lung transplantation. Identifying …

Acute inflammatory exacerbations (AIE) represent precipitous deteriorations of a number of
chronic lung conditions, including pulmonary fibrosis (PF), chronic obstructive pulmonary …

Summary Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated
with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung …

Surfactant proteins A and D (SP-A and SP-D) are members of the collectin family of host
defense proteins that are expressed in epithelial cells lining the lung. SP-A and SP-D …

Identification of genes responsible for pediatric interstitial lung diseases provides the
opportunity for noninvasive testing to establish an etiologic diagnosis, to counsel family …

Objective To review the pathophysiology, evaluation, management, and outcomes of
children with inherited disorders of surfactant metabolism due to mutations in the genes …

Dominant mutations in coding regions of the surfactant protein-C gene, SFTPC, cause
respiratory distress syndrome (RDS) in infants. However, the contribution of variants in …

Genetic defects of surfactant metabolism are associated with a broad range of clinical
manifestations, from neonatal respiratory distress syndrome to adult interstitial lung disease …

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative
deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse …

In only around 40% of families with pulmonary fibrosis (PF) a suspected genetic cause can
be found. Genetic overlap analysis of Whole Exome Sequencing (WES) data may be a …