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Neonatal acute respiratory distress due to SP-B deficiency

Disease definition

A rare genetic interstitial lung disease characterized by progressive, life-threatening, refractory respiratory distress in full-term neonates associated with surfactant protein B deficiency. In most cases, the disease is fatal within the first months of life. Lung biopsy reveals changes characteristic of pulmonary alveolar proteinosis with interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.

ORPHA:217563

Classification level: Disorder
  • Synonym(s):
    • Neonatal acute respiratory distress due to surfactant protein B deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: P28.0
  • OMIM: 265120
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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