Hereditary pulmonary alveolar proteinosis

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Name:
Hereditary pulmonary alveolar proteinosis
Description:
A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.
ORPHAcode:
264675
Synonyms:
Congenital PAP
Congenital pulmonary alveolar proteinosis
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14