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.
Co se diagnózou změní
Knowing can support earlier diagnosis, specialist respiratory care, consideration of whole-lung lavage or transplant where appropriate, and information for family planning.
Známé také jako
congenital PAP; congenital pulmonary alveolar proteinosis; inborn error of pulmonary surfactant metabolism; inborn error of surfactant metabolism
Zahrnuty jsou také specifické formy
Zahrnuje 8 příbuzných podtypů ↓Skrýt podtypy ↑
- 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
