The expanded spectrum of genetic surfactant dysfunction disorders

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 surfactant function and/or metabolism are rare but important causes of acute and chronic lung disease in children and adults, with disease onset ranging from immediately after birth to well into adulthood. Collectively these disorders are referred to as genetic surfactant dysfunction disorders. This article reviews the known genetic causes of surfactant dysfunction, with emphasis on the clinical presentations of each entity and the implications of the disorders for understanding normal lung cell biology and for other diseases of the lung.