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Article

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

Internal medicine (Tokyo, Japan) - 1 Sept 2023

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

Abstract excerpt

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...

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Identifiers

PMID: 36642519
DOI: 10.2169/internalmedicine.0980-22
PMCID: PMC10518537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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