Summary chILD encompasses a collection of rare, diffuse lung diseases. Timely recognition
of children with suspected ILD and initiation of appropriate diagnostic evaluations will …

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

Background Previous studies investigating a genetic basis for idiopathic pulmonary fibrosis
(IPF) have focused on resequencing single genes in IPF kindreds or cohorts to determine …

Interstitial lung diseases in infants and children are uncommon and may be caused by
specific inborn errors of surfactant metabolism. Five children with open lung biopsy …

В обзоре на основании данных современной литературы представлены сведения о
биологии, физиологии и метаболизме сурфактанта, идентифицированных в …

A multi‐disciplinary scientific conference focused on diffuse and interstitial lung diseases in
children was held in La Jolla, CA in June 2012. The conference brought together clinicians …

Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as
autosomal traits with variable penetrance and severity or as sporadic disease caused by a …

Even in cases where there is no obvious family history of disease, genome sequencing may
contribute to clinical diagnosis and management. Clinical application of the genome has not …

Pulmonary surfactant is the mixture of lipids and proteins needed for reducing surface
tension in the alveoli at end expiration. Mutations in the genes encoding proteins critical for …

Pulmonary fibrosis is the formation of fibrous tissue as a reaction or a repair process in the
lung. It is the main cause of severe morbidity and mortality in interstitial lung disease (ILD) …