Introduction Therapeutics exist to treat fibrotic lung disease in adults, but these have not
been investigated in children. Defining biomarkers for pediatric fibrotic lung disease in …

Abstract Aim of the Study Determine high‐resolution tomography (HRCT) scan
characteristics in children with SFTPC mutation and correlate them to histological findings …

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 …

Study objectives To present diagnosis and treatment modalities of children with interstitial
lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation …

Materials and Methods: Infants who presented with respiratory symptoms of diffuse lung
disease of unknown etiology were evaluated for mutations are part of a prospective study …

Pathogenic variants in the Surfactant Protein C gene (SFTPC) result in fibrotic childhood
interstitial lung disease (chILD). We previously reported three children with SFTPC …

Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare
and not well characterised. We report on all subjects collected over a 15-year period in the …

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 …

Background Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung
disease (ILD). Our objective was to characterize clinical and genetic spectrum of ILD in …

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 …