Hereditary pulmonary alveolar proteinosis

MONDO:0012580

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, pulmonary alveolar proteinosis, congenital, sufactant metabolism dysfunction, pulmonary

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