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

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

Radiol Case Rep. 2025 Jun 12;20(9):4299-4303. doi: 10.1016/j.radcr.2025.05.051. eCollection 2025 Sep.

ABSTRACT

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.

PMID:40575365 | PMC:PMC12197890 | DOI:10.1016/j.radcr.2025.05.051