CTICasesSurfactant Protein C Mutation-Associated Pulmonary Fibrosis
Imaging findings
High-resolution chest CT demonstrates extensive, diffuse cystic changes throughout both lungs, accompanied by traction bronchiectasis, marked architectural distortion, and diffuse reticulogranular or ground-glass opacities.
Key takeaways
Surfactant protein C mutations are rare genetic causes of childhood or young adult interstitial lung disease. Although often inherited in an autosomal dominant pattern with genetic anticipation (earlier and more severe onset in successive generations), sporadic de novo mutations can occur in patients with no family history of lung disease. Genetic testing, such as whole-exome sequencing, is valuable in young patients presenting with unclassifiable fibrosing interstitial lung disease.
AI-assisted summary — may contain errors. Verify against the source video. Learn more
More from this webinar
- Thalassemia with Extramedullary HematopoiesisMetabolic
- Traumatic Aortic TransectionTrauma
- Pulmonary CoccidioidomycosisInfection
- Iatrogenic Aortic Injury from Intra-Aortic Balloon Pump (IABP)Iatrogenic
- Spontaneous Coronary Artery Dissection (SCAD)Vascular
- Post-Lobectomy Pulmonary Vein Stump ThrombusVascular
- Pulmonary ActinomycosisInfection
- Invasive Pulmonary AspergillosisInfection
See all cases from August 13, 2021 →
Related ILD cases
- Langerhans Cell Histiocytosis and Desquamative Interstitial Pneumonia
- Fibrotic Hypersensitivity Pneumonitis
- Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) in CVID
- Non-Fibrotic Hypersensitivity Pneumonitis
- Pulmonary Interstitial Emphysema in Dermatomyositis-Associated Interstitial Lung Disease and Diffuse Alveolar Damage
- E-cigarette or Vaping Product Use-Associated Lung Injury presenting as Acute Eosinophilic Pneumonia