Orphanet: Hereditary pulmonary alveolar proteinosis
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Hereditary pulmonary alveolar proteinosis

Disease definition

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.

ORPHA:264675

Classification level: Disorder
  • Synonym(s):
    • Congenital PAP
    • Congenital pulmonary alveolar proteinosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult, Elderly
  • ICD-10: J84.0
  • OMIM: 300770  614370
  • UMLS: C2931035
  • MeSH: -
  • GARD: 4582
  • MedDRA: -

Detailed information

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