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...
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| Language: | English |
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Elsevier
2025-09-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325004844 |
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| author | Yildiz Sengul, MD Emily Gosche, MD Todd Hazelton, MD |
| author_facet | Yildiz Sengul, MD Emily Gosche, MD Todd Hazelton, MD |
| author_sort | Yildiz Sengul, MD |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-8cd3ac2f736c453aab164ce180473dfc |
| institution | Kabale University |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-8cd3ac2f736c453aab164ce180473dfc2025-08-20T03:50:21ZengElsevierRadiology Case Reports1930-04332025-09-012094299430310.1016/j.radcr.2025.05.051A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature reviewYildiz Sengul, MD0Emily Gosche, MD1Todd Hazelton, MD2Department of Radiology, University of North Carolina, 101 Manning Dr, Chapel Hill, NC 27514; Corresponding author.Division of Pulmonary Disease and Critical Care Medicine, University of North Carolina, 101 Manning Dr, Chapel Hill, NC 27514Department of Radiology, University of North Carolina, 101 Manning Dr, Chapel Hill, NC 27514Interstitial 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.http://www.sciencedirect.com/science/article/pii/S1930043325004844Surfactant Protein CSP-C gene mutationAdulthood interstitial lung diseasePulmonary fibrosisCT scan |
| spellingShingle | Yildiz Sengul, MD Emily Gosche, MD Todd Hazelton, MD A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review Radiology Case Reports Surfactant Protein C SP-C gene mutation Adulthood interstitial lung disease Pulmonary fibrosis CT scan |
| title | A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review |
| title_full | A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review |
| title_fullStr | A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review |
| title_full_unstemmed | A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review |
| title_short | A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review |
| title_sort | rare interstitial lung disease in young adulthood due to surfactant protein c gene mutation two case reports with brief literature review |
| topic | Surfactant Protein C SP-C gene mutation Adulthood interstitial lung disease Pulmonary fibrosis CT scan |
| url | http://www.sciencedirect.com/science/article/pii/S1930043325004844 |
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