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Hereditary pulmonary alveolar proteinosis

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.


  • Synonym(s):
    • Congenital PAP
    • Congenital pulmonary alveolar proteinosis
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: J84.0
  • OMIM: 300770  614370
  • UMLS: C2931035
  • MeSH: -
  • GARD: 4582
  • MedDRA: -

Detailed information


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