surfactant metabolism dysfunction—pulmonary—3

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surfactant metabolism dysfunction—pulmonary—32016-11-28T21:22:03+00:00

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 


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