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Hereditary pulmonary alveolar proteinosis

Synonym(s) Congenital PAP
Congenital pulmonary alveolar proteinosis
Prevalence Unknown
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Infancy
  • J84.0
  • C2931035
MeSH -
MedDRA -


Disease 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.

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