Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918

This article has now been updated. Please use the final version.

Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy: A Case Report
Tsuguhiro FurukawaKimitaka AkaikeShinji IyamaAiko MasunagaYusuke TomitaSho SaekiHidenori IchiyasuTakuro Sakagami
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JOURNAL OPEN ACCESS Advance online publication

Article ID: 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.215 G>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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© 2023 by The Japanese Society of Internal Medicine
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