Hereditary pulmonary alveolar proteinosis
Hereditary pulmonary alveolar proteinosis
Definition
Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.
Also known as congenital PAP, congenital pulmonary alveolar proteinosis, hereditary pulmonary alveolar proteinosis, inborn error of pulmonary surfactant metabolism, inborn error of surfactant metabolism — per MONDO