Interstitial, Inflammatory, and Occupational Lung DiseaseThe Expanded Spectrum of Genetic Surfactant Dysfunction DisordersGower, W. Adam MD*; Collaco, Joseph M. MD†; Nogee, Lawrence M. MD‡Author Information *Department of Pediatrics and Center for Genomics and Personalized Medicine Research, Section of Pediatric Pulmonology and Sleep Medicine, Wake Forest School of Medicine, Winston-Salem, NC †Department of Pediatrics, Eudowood Division of Pediatric Respiratory Sciences ‡Department of Pediatrics, Eudowood Neonatal Respiratory Division, Johns Hopkins University School of Medicine, Baltimore, MD Supported by grants throughout the National Institutes of Health (HL54703, LMN, T32 HL072748, WAG) and the Eudowood and Hartwell Foundations. L.M.N. and W.A.G. receive royalties from UpToDate. Disclosure: The authors declare that they have no conflicts of interest. Address correspondence to: Lawrence M. Nogee, MD, CMSC 6-104A, 600N. Wolfe Street, Baltimore, MD 21287. E-mail: email@example.com. Clinical Pulmonary Medicine: January 2014 - Volume 21 - Issue 1 - p 16-23 doi: 10.1097/CPM.0000000000000020 Buy Metrics Abstract 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. © 2014 by Lippincott Williams & Wilkins, Inc.