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- Tsuguhiro Furukawa, Kimitaka Akaike, Shinji Iyama, Aiko Masunaga, Yusuke Tomita, Sho Saeki, Hidenori Ichiyasu, and Takuro Sakagami.
- Department of Respiratory Medicine, Kumamoto University Hospital, Japan.
- Intern. Med. 2023 Sep 1; 62 (17): 252125252521-2525.
AbstractMutations in the surfactant protein C gene (SFTPC) are responsible for hereditary interstitial lung disease (ILD), which is a rare disease. We herein report a patient with a clinical history of endogenous lipoid pneumonia in infancy who developed diffuse progressive pulmonary fibrosis in adulthood associated with SFTPC mutations. A surgical lung biopsy and genetic sequencing revealed fibrotic interstitial pneumonia and two SFTPC mutations (c.215G>A and c.578C>A). Based on these findings, we diagnosed the series of lung diseases as sporadic ILD caused by SFTPC mutations. Physicians should suggest genetic sequencing in patients with early-onset ILD.
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