A Mutation in the Surfactant Protein C Gene Associated with Familial Interstitial Lung Disease

Abstract

Interstitial lung diseases are a heterogeneous group of disorders that are poorly understood at a molecular level.^1,2 The cause is often unknown, and the histologic diagnoses used in adults may represent different disease processes in children.^3-5 For example, cases of desquamative interstitial pneumonitis reported in infants are often more severe and refractory to treatment than those reported in adults.^6,7 Many of these cases probably represent chronic pneumonitis of infancy.^8,9 The lungs in patients with chronic pneumonitis of infancy are characterized by interstitial thickening with mesenchymal cells, rather than by an inflammatory infiltrate, and an alveolar infiltrate with variable amounts of proteinaceous material. A possible genetic basis for desquamative interstitial pneumonitis and chronic pneumonitis of infancy is suggested by reports of familial cases.^6,8,10 We tested the hypothesis that mutations in the gene (SP-C ) encoding surfactant protein C, a hydrophobic, lung-specific protein, were associated with chronic lung disease in an infant with a family history of interstitial lung disease.