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Semin Respir Crit Care Med 2020; 41(02): 229-237
DOI: 10.1055/s-0040-1708054
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Familial Interstitial Lung Disease

Jonathan A. Kropski
1   Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee
2   Department of Cell and Developmental Biology, Vanderbilt University, Nashville, Tennessee
3   U.S. Department of Veterans Affairs Medical Center, Nashville, Tennessee
› Author Affiliations
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Publication History

Publication Date:
12 April 2020 (online)

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Abstract

The interstitial lung diseases (ILDs) are a group of progressive disorders characterized by chronic inflammation and/or fibrosis in the lung. While some ILDs can be linked to specific environmental causes (i.e., asbestosis, silicosis), in many individuals, no culprit exposure can be identified; these patients are deemed to have “idiopathic interstitial pneumonia” (IIP). Family history is now recognized as the strongest risk factor for IIP, and IIP cases that run in families comprise a syndrome termed “familial interstitial pneumonia” (FIP). Mutations in more than 10 different genes have been implicated as responsible for disease in FIP families. Diverse ILD clinical phenotypes can be seen within a family, and available evidence suggests underlying genetic risk is the primary determinant of disease outcomes. Together, these FIP studies have provided unique insights into the pathobiology of ILDs, and brought focus on the unique issues that arise in the care of patients with FIP.

Keywords

IPF - pulmonary fibrosis - genetics - telomere - surfactant - alveolar epithelial cells
 

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