Lung Diseases Associated With Disruption of Pulmonary Surfactant Homeostasis

Pulmonary surfactant is a complex mixture of lipids and specific proteins that stabilizes alveoli at the end of expiration and has an important role in innate immune defense. Genetic or autoimmune mechanisms that disrupt the normal production, function, or catabolism of surfactant can result in diffuse lung disease that is variable in its onset, ranging from the newborn period to adulthood, as well as severity. While rare, these disorders are associated with significant morbidity and mortality and provide insights into normal lung cell metabolism. This chapter will review the epidemiology, pathophysiology, and clinical and laboratory aspects of these disorders and discuss the approach to diagnosis and treatment..