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.



  • 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


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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