CTICasesFamilial Pulmonary Fibrosis from Surfactant Protein C (SFTPC) Deficiency (Father and Infant Son)
Imaging findings
A 45-year-old man with only recent-onset symptoms had CT showing reticulation, multiple cysts with a peribronchovascular distribution in several lobes, traction bronchiectasis, and ground glass that was inconsistent with a usual interstitial pneumonia (UIP) pattern and difficult to classify. His son had developed respiratory failure at six months of age with ground-glass opacities and mild reticulation on early imaging, evolving over several years to diffusely abnormal lungs with small cysts; genetic testing eventually identified a surfactant protein C (SFTPC) mutation in the child, prompting evaluation of the father for the same familial fibrosis.
Key takeaways
Interstitial lung disease with a fibrotic pattern that cannot be classified as UIP, NSIP, or another standard idiopathic pattern should prompt consideration of a familial/genetic fibrosing lung disease, and identifying a causative mutation (here, surfactant protein C deficiency) in an affected child can be the trigger to evaluate an affected parent; disease severity and age of onset can vary widely within the same family and the same mutation, from infantile respiratory failure to mild adult-onset disease.
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