Hereditary Pulmonary Alveolar Proteinosis and Surfactant Dysfunction
Inherited disorders of surfactant production or clearance, including those caused by SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB and MARS1, that range from fatal respiratory distress in newborns to interstitial lung disease in children and adults.
What a diagnosis changes
Knowing can support earlier diagnosis, specialist respiratory care, consideration of whole-lung lavage or transplant where appropriate, and information for family planning.
Also known as
congenital PAP; congenital pulmonary alveolar proteinosis; inborn error of pulmonary surfactant metabolism; inborn error of surfactant metabolism; pulmonary alveolar proteinosis, congenital
Specific forms also covered
Surfactant Metabolism Dysfunction, Pulmonary, 1
Autosomal recessive
Includes 8 related subtypes ↓Hide subtypes ↑
- chronic respiratory distress with surfactant metabolism deficiency
- interstitial lung disease due to ABCA3 deficiency
- severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- SFTPC-related interstitial lung disease
- surfactant metabolism dysfunction, pulmonary, 1
- surfactant metabolism dysfunction, pulmonary, 2
- surfactant metabolism dysfunction, pulmonary, 4
- surfactant metabolism dysfunction, pulmonary, 5
