Chest
Selected ReportsIdentification of Early Interstitial Lung Disease in an Individual With Genetic Variations in ABCA3 and SFTPC
Section snippets
Case Report
We previously reported a study in which we screened for SFTPC mutations in DNA from sporadic cases of UIP (89 patients) and nonspecific interstitial pneumonia (46 patients). In this study, only one individual out of 135 had a mutation in SFTPC, a threonine-to-isoleucine substitution in codon 73 (I73T).10 The heterozygous I73T mutation may be the most common SFTPC mutation as it has been reported in several children with ILD.11 This 61-year-old man had been diagnosed with IPF based on clinical
Discussion
In this report, we describe the presence of two heterozygous gene variations, I73T SFTPC and D123N ABCA3, within a single family. In addition, we found evidence of early ILD in an asymptomatic family member. HRCT scan of this daughter, who like her father carried both variations, demonstrated subtle interstitial changes within the lower lobes of the lungs, suggesting the presence of subclinical ILD. Transbronchial biopsies also demonstrated findings consistent with early ILD. Interestingly,
Acknowledgments
Financial/nonfinancial disclosures: The authors have reported to CHEST that no potential conflicts of interest exist with any companies/organizations whose products or services may be discussed in this article.
References (0)
Cited by (85)
Emerging opportunities to treat idiopathic pulmonary fibrosis: Design, discovery, and optimizations of small-molecule drugs targeting fibrogenic pathways
2023, European Journal of Medicinal ChemistryInduced pluripotent stem cells: Novel concepts for respiratory disease modeling
2022, Novel Concepts in iPSC Disease ModelingInterstitial Lung Abnormalities and Early Interstitial Lung Disease
2021, Encyclopedia of Respiratory Medicine, Second Edition
Funding/Support: This study was funded by the National Institutes of Health [Grants HL85317, HL85406, HL87738, M01 RR00095, and UL1 RR024975]; American Thoracic Society Research Grant Program; American Lung Association Dalsemer Research Grant; and the Francis Family Foundation. Dr Lawson is a Parker B. Francis Fellow in Pulmonary Research.
Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (www.chestpubs.org/site/misc/reprints.xhtml).