Surfactant Dysfunction Disorders Overview
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Questions and Answers

Which gene mutation is most commonly associated with an autosomal recessive disorder leading to rapid respiratory failure?

  • ABCA3 (correct)
  • Surfactant Protein B (SP-B)
  • Surfactant Protein D (SP-D)
  • Surfactant Protein C (SP-C)
  • What characteristic findings in microscopic examination are indicative of surfactant dysfunction disorders?

  • Intra-alveolar hemorrhage and necrosis
  • Lymphocytic infiltration and granuloma formation
  • Thickened alveolar walls without type II pneumocyte involvement
  • Type II pneumocyte hyperplasia and interstitial fibrosis (correct)
  • Which surfactant protein gene mutation is associated with a dominant inheritance pattern?

  • ABCA3
  • Surfactant Protein C (SP-C) (correct)
  • Surfactant Protein A (SP-A)
  • Surfactant Protein B (SP-B)
  • What are the typical clinical manifestations of SP-B mutations?

    <p>Progressive respiratory distress shortly after birth</p> Signup and view all the answers

    What diagnostic ultrastructural finding is characteristic of ABCA3 mutations?

    <p>Small lamellar bodies with electron dense cores</p> Signup and view all the answers

    Study Notes

    Surfactant Dysfunction Disorders

    • Caused by mutations in genes encoding proteins involved in surfactant trafficking or secretion.
    • Can manifest as neonatal respiratory failure or adult-onset interstitial lung disease.
    • ABCA3: Most frequently mutated gene, leading to autosomal recessive disorder with rapid respiratory failure, often fatal, can present later in life as chronic interstitial lung disease.
    • SP-C: Second most commonly mutated gene, autosomal dominant inheritance with variable course.
    • SP-B: Third most commonly mutated gene, autosomal recessive inheritance, resulting in progressive respiratory distress shortly after birth, often leading to death within 3-6 months.

    Morphological Changes

    • Microscopic examination reveals: intra-alveolar pink granular material, type II pneumocyte hyperplasia, interstitial fibrosis, and alveolar simplification.
    • Immunohistochemical stains show a lack of surfactant proteins C and B.
    • Ultrastructurally, abnormalities in lamellar bodies within type II pneumocytes are present.
    • Small lamellar bodies with electron dense cores are diagnostic of ABCA3 mutations.

    Pulmonary Embolism and Infarction

    • Significant cause of morbidity and mortality, particularly affecting bedridden patients.

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    Description

    This quiz covers surfactant dysfunction disorders, focusing on genetic mutations in surfactant proteins and their clinical manifestations. Participants will learn about ABCA3, SP-C, and SP-B mutations, alongside the morphological changes observed in these disorders. Test your knowledge on the impact of these mutations on neonatal and adult respiratory conditions.

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