Surfactant Protein C Mutations Are the Basis of a Significant Portion of Adult Familial Pulmonary Fibrosis in a Dutch Cohort

• Published in: American journal of respiratory and critical care medicine Vol. 182; no. 11; pp. 1419 - 1425
• Main Authors: van Moorsel, Coline H. M., van Oosterhout, Matthijs F. M., Barlo, Nicole P., de Jong, Pim A., van der Vis, Joanne J., Ruven, Henk J. T., van Es, H. Wouter, van den Bosch, Jules M. M., Grutters, Jan C.
• Format: Journal Article
• Language: English
• Published: New York, NY American Thoracic Society 01.12.2010
• Subjects: Adult; Aged; Aged, 80 and over; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Cohort Studies; Cysts; Families & family life; Family; Female; Genetic Predisposition to Disease - genetics; Hospitals; Humans; Idiopathic Interstitial Pneumonias - complications; Idiopathic Interstitial Pneumonias - genetics; Intensive care medicine; Lung diseases; Male; Medical prognosis; Medical records; Medical sciences; Middle Aged; Mutation; Mutation - genetics; Netherlands - epidemiology; Pedigree; Pneumology; Pneumonia; Polymerase Chain Reaction; Polymorphism, Genetic - genetics; Proteins; Pulmonary fibrosis; Pulmonary Fibrosis - etiology; Pulmonary Fibrosis - genetics; Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases; Pulmonary Surfactant-Associated Protein C - genetics; Statistics, Nonparametric; Surfactants; Netherlands; Lung disease; Intensive care; Respiratory disease; ABCA3; Idiopathic; Protein C; idiopathic pulmonary fibrosis; Surfactant; idiopathic interstitial pneumonia; lung cysts; Pulmonary fibrosis; Pulmonary surfactant; Cyst; Interstitial pneumonitis; Benign neoplasm; Mutation; Resuscitation

Familial clustering of adult idiopathic interstitial pneumonias (IIP) suggests that genetic factors might play an important role in disease development. Mutations in the gene encoding surfactant protein C (SFTPC) have been found in children and families with idiopathic pneumonias, whereas cocarriage...