/hereditary pulmonary alveolar proteinosis

hereditary pulmonary alveolar proteinosis

Rare Disease

MONDO:0012580

Also Known As

congenital PAPcongenital pulmonary alveolar proteinosishereditary pulmonary alveolar proteinosisinborn error of pulmonary surfactant metabolisminborn error of surfactant metabolismpulmonary alveolar proteinosis, congenitalsufactant metabolism dysfunction, pulmonary

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.