Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy

Tsuguhiro Furukawa; Kimitaka Akaike; Shinji Iyama; Aiko Masunaga; Yusuke Tomita; Sho Saeki; Hidenori Ichiyasu; Takuro Sakagami

doi:10.2169/internalmedicine.0980-22

CASE REPORTS

Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy

Tsuguhiro Furukawa, Kimitaka Akaike, Shinji Iyama, Aiko Masunaga, Yusuke Tomita, Sho Saeki, Hidenori Ichiyasu, Takuro Sakagami

Author information

Tsuguhiro Furukawa
Department of Respiratory Medicine, Kumamoto University Hospital, Japan
Department of Respiratory Medicine, Kumamoto Chuo Hospital, Japan
Kimitaka Akaike
Department of Respiratory Medicine, Kumamoto University Hospital, Japan
Shinji Iyama
Department of Respiratory Medicine, Kumamoto University Hospital, Japan
Aiko Masunaga
Department of Respiratory Medicine, Kumamoto University Hospital, Japan
Yusuke Tomita
Department of Respiratory Medicine, Kumamoto University Hospital, Japan
Sho Saeki
Department of Respiratory Medicine, Kumamoto University Hospital, Japan
Hidenori Ichiyasu
Department of Respiratory Medicine, Kumamoto University Hospital, Japan
Takuro Sakagami
Department of Respiratory Medicine, Kumamoto University Hospital, Japan

Keywords: surfactant protein C gene, interstitial lung disease, endogenous lipoid pneumonia, progressive pulmonary fibrosis

JOURNAL OPEN ACCESS

2023 Volume 62 Issue 17 Pages 2521-2525

DOI https://doi.org/10.2169/internalmedicine.0980-22

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Abstract

Mutations 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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