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Questions and Answers
Which gene mutation is most commonly associated with an autosomal recessive disorder leading to rapid respiratory failure?
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?
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?
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?
What are the typical clinical manifestations of SP-B mutations?
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What diagnostic ultrastructural finding is characteristic of ABCA3 mutations?
What diagnostic ultrastructural finding is characteristic of ABCA3 mutations?
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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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