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

Yildiz Sengul; Emily Gosche; Todd Hazelton

doi:10.1016/j.radcr.2025.05.051

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.

Authors

Yildiz Sengul¹, Emily Gosche², Todd Hazelton¹

Affiliations

¹ Department of Radiology, University of North Carolina, 101 Manning Dr, Chapel Hill, NC 27514.
² Division of Pulmonary Disease and Critical Care Medicine, University of North Carolina, 101 Manning Dr, Chapel Hill, NC 27514.

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.

Keywords: Adulthood interstitial lung disease; CT scan; Pulmonary fibrosis; SP-C gene mutation; Surfactant Protein C.

Published by Elsevier Inc. on behalf of University of Washington.

Publication types

Case Reports