A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review

Interstitial lung disease associated with mutations in the surfactant protein C gene (SFTPC) is a rare condition. These mutations can be inherited as an autosomal dominant trait or occur sporadically due to a de novo mutation. The clinical symptoms of this disease can vary widely, ranging from fatal acute respiratory distress syndrome (RDS) in neonates to chronic lung disease in adults. We present 2 cases of young adults with SFTPC mutations related to interstitial lung disease (ILD). Chest CT findings in these cases included ground-glass opacities, reticulation, multiple cysts, and thickening of the interlobular septae.