Pulmonary fibrosis with a rare SFTPC variant (c.304G>A, p.Val102Met): A case report
Genetically associated pulmonary fibrosis often occurs at a younger age, progresses rapidly, and has poor prognosis; however, its diagnosis and management remain challenging. Causative gene mutations are classified into two main categories: Telomere- and surfactant-related. We report the case of a 41-year-old Japanese woman with a heterozygous missense variant in surfactant protein C, c.304G>A (p.Val102Met). To the best of our knowledge, this is the third reported patient with interstitial lung disease potentially linked to this variant and the second with adult onset; furthermore, this is the first reported case in a Japanese individual.
Authors
- Hirokazu Yura (ORCID: https://orcid.org/0000-0003-2496-7358)
- Takuto Miyamura (ORCID: https://orcid.org/0000-0002-2685-8000)
- Mutsumi Ozasa (ORCID: https://orcid.org/0000-0003-1482-2948)
- Takahiro Takazono (ORCID: https://orcid.org/0000-0002-0696-5386)
- Noriho Sakamoto (ORCID: https://orcid.org/0000-0002-7577-476X)
- Hiroshi Ishimoto (ORCID: https://orcid.org/0000-0002-4374-2894)
- Yuka Kitamura (ORCID: https://orcid.org/0009-0001-7403-0902)
- Takashi Kido (ORCID: https://orcid.org/0000-0001-8338-0608)
- Hiroshi Mukae
- Junya Fukuoka
Institutions
- University of Nagasaki (JP)
- Nagasaki University Hospital (JP)
- Nagasaki University (JP)
Publication Details
- Journal
- Respiratory Investigation
- Published
- 2026-04-13
- DOI
- https://doi.org/10.1016/j.resinv.2026.101423
- Primary Topic
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Type
- article
- Field-Weighted Citation Impact
- 0.00