Congenital Surfactant Deficiency



Congenital Surfactant Deficiency


Billie Fyfe, MD

Eileen McKay, MD









Lobular remodeling, interstitial widening, increased smooth muscle image, and cholesterol clefts image are shown in a 23 month old with a SFTPC mutation.






Lung biopsy shows early remodeling, pneumocyte hyperplasia, and foamy alveolar macrophages image as described in patients with mutations of SFTPB and ABCA3.


TERMINOLOGY


Synonyms



  • Surfactant dysfunction disorder


  • Congenital alveolar proteinosis



    • Often used incorrectly as a synonym



      • Proteinosis histology not specific to surfactant dysfunction and is one of many histologic patterns seen in this disease



ETIOLOGY/PATHOGENESIS


Normal Surfactant Homeostasis



  • Synthesized, packaged, and secreted by type 2 pneumocytes via lamellar bodies, surfactant reduces surface tension at air-liquid interface in the alveoli



    • Surfactant proteins B (SP-B) and C (SP-C) interact with surfactant phospholipids to aid organization, spreading, and stability of surfactant



      • SP-B also important for processing proSP-C to SP-C


    • ABCA3 aids translocation of substances (especially lipids) across cell membranes



      • Expressed on outer membrane of lamellar bodies


      • Thought to play a role in maturation of lamellar bodies


    • TTF-1 protein important for lung development and expression of SP-B, SP-C, and ABCA3


Inheritance Patterns and Mutations

Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Congenital Surfactant Deficiency
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