Impact of genetic factors on fibrosing interstitial lung diseases. Incidence and clinical presentation in adults.

Abstract

At least 10% of patients with pulmonary fibrosis, whether idiopathic or secondary, present heritable pulmonary fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 30% of those patients have an identified mutation mostly in telomere related genes (TRG) more rarely in surfactant homeostasis or other genes. TRG mutation may be associated with hematological and hepatic diseases that may worsen after lung transplantation requiring a specific care and adapted immunosuppression. Surfactant genes mutations are usually associated with ground-glass opacities and cysts on CT scan and may improve with steroids, hydroxychloroquine or azithromycin. Moreover relatives should benefit from a genetic analysis associated with a clinical evaluation according to the gene involved. Genetics of pulmonary fibrosis raise specific problems from diagnosis, therapy or genetic counseling varying from one gene to another.

• Authors: Raphael Borie, Caroline Kannengiesser, Clairelyne Dupin, Marie-Pierre Debray, Aurélie Cazes, Bruno Crestani
• Journal: Presse medicale (Paris, France : 1983) (Presse Med) Vol. 49 Issue 2 Pg. 104024 (Jun 2020) ISSN: 2213-0276 [Electronic] France
• PMID: 32437840 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2020 Elsevier Masson SAS. All rights reserved.

Chemical References

• Pulmonary Surfactant-Associated Proteins
• Steroids

Topics

• Adult
• Female
• Genetic Predisposition to Disease
• Humans
• Incidence
• Lung Diseases, Interstitial (diagnostic imaging, drug therapy, epidemiology, genetics)
• Male
• Mutation
• Pedigree
• Pulmonary Fibrosis (diagnostic imaging, epidemiology, genetics)
• Pulmonary Surfactant-Associated Proteins (genetics)
• Risk Factors
• Steroids (therapeutic use)
• Telomere (genetics)
• Tomography, X-Ray Computed