surfactant metabolism dysfunction—pulmonary—3
Definition Surfactant metabolism dysfunction—pulmonary—3 is an über rare disorder (OMIM:610921) of impaired surfactant homeostasis, which is characterised by alveoli filled with PAS*-positive surfactant phospholipids and proteins, resulting in severe respiratory distress.
*Periodic acid-Schiff stain
Molecular pathology Defects of ABCA3, which encodes an ATP-binding cassette that acts as a cholesteral efflux pump in lipid removal, cause pulmonary surfactant metabolism dysfunction 3.
Synonyms Interstital lung disease due to ABCA3 deficiency, pulmonary alveolar proteinosis—congenital—type 3, pulmonary surfactant metabolism dysfunction type 3