The University of Southampton
University of Southampton Institutional Repository

Genetic testing in diffuse parenchymal lung disease

Genetic testing in diffuse parenchymal lung disease
Genetic testing in diffuse parenchymal lung disease
Diffuse parenchymal lung diseases (DPLD) represent a diverse group of disorders affecting the distal lung parenchyma, specifically the tissue and spaces surrounding the alveoli, which may be filled with inflammatory cells, proliferating fibroblasts or established fibrosis, often leading to architectural distortion and impaired gas exchange. While the underlying pathogenetic mechanisms are known or inferred for some DPLD (such as sarcoidosis, silicosis, drug reactions and collagen vascular diseases), the pathogenesis of the majority of these entities - particularly those characterized by progressive fibrosis - is poorly understood.Several lines of evidence indicate that the development of pulmonary fibrosis is genetically determined. They include: 1. familial clustering; 2. the occurrence of pulmonary fibrosis in the context of rare inherited disorders; 3. substantial variability in the development of pulmonary fibrosis amongst individuals exposed to organic or inorganic dusts; 4. difference in susceptibility to fibrogenic stimuli amongst inbred strains of mice.This review focuses on idiopathic pulmonary fibrosis (IPF) and sarcoidosis, the two most common DPLD and the two entities for which there is stronger evidence of a genetic predisposition, although how aberrant genes interact with each other and with environmental factors, such as smoking in IPF and infectious agents in sarcoidosis, in determining disease susceptibility and clinical phenotypes is largely unknown. Finally, we discuss practical issues and implications for both patients and physicians of recent advances in the genetics of sarcoidosis and IPF.
1750-1172
79
Spagnolo, Paolo
402ffcfa-f566-48e8-986a-5b0b2930d4ae
Luppi, Fabrizio
63b544e0-fbe9-490a-8bcd-e5452a46a234
Cerri, Stefania
7ea9bc28-eaf2-46ce-8433-b9e732484b5f
Richeldi, Luca
47177d9c-731a-49a1-9cc6-4ac8f6bbbf26
Spagnolo, Paolo
402ffcfa-f566-48e8-986a-5b0b2930d4ae
Luppi, Fabrizio
63b544e0-fbe9-490a-8bcd-e5452a46a234
Cerri, Stefania
7ea9bc28-eaf2-46ce-8433-b9e732484b5f
Richeldi, Luca
47177d9c-731a-49a1-9cc6-4ac8f6bbbf26

Spagnolo, Paolo, Luppi, Fabrizio, Cerri, Stefania and Richeldi, Luca (2012) Genetic testing in diffuse parenchymal lung disease. Orphanet Journal of Rare Diseases, 7, 79. (doi:10.1186/1750-1172-7-79). (PMID:23075428)

Record type: Article

Abstract

Diffuse parenchymal lung diseases (DPLD) represent a diverse group of disorders affecting the distal lung parenchyma, specifically the tissue and spaces surrounding the alveoli, which may be filled with inflammatory cells, proliferating fibroblasts or established fibrosis, often leading to architectural distortion and impaired gas exchange. While the underlying pathogenetic mechanisms are known or inferred for some DPLD (such as sarcoidosis, silicosis, drug reactions and collagen vascular diseases), the pathogenesis of the majority of these entities - particularly those characterized by progressive fibrosis - is poorly understood.Several lines of evidence indicate that the development of pulmonary fibrosis is genetically determined. They include: 1. familial clustering; 2. the occurrence of pulmonary fibrosis in the context of rare inherited disorders; 3. substantial variability in the development of pulmonary fibrosis amongst individuals exposed to organic or inorganic dusts; 4. difference in susceptibility to fibrogenic stimuli amongst inbred strains of mice.This review focuses on idiopathic pulmonary fibrosis (IPF) and sarcoidosis, the two most common DPLD and the two entities for which there is stronger evidence of a genetic predisposition, although how aberrant genes interact with each other and with environmental factors, such as smoking in IPF and infectious agents in sarcoidosis, in determining disease susceptibility and clinical phenotypes is largely unknown. Finally, we discuss practical issues and implications for both patients and physicians of recent advances in the genetics of sarcoidosis and IPF.

This record has no associated files available for download.

More information

Published date: 17 October 2012
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 369088
URI: http://eprints.soton.ac.uk/id/eprint/369088
ISSN: 1750-1172
PURE UUID: 3961304d-e95b-4deb-b276-0e06b4c1ac8c

Catalogue record

Date deposited: 24 Sep 2014 12:16
Last modified: 14 Mar 2024 17:57

Export record

Altmetrics

Contributors

Author: Paolo Spagnolo
Author: Fabrizio Luppi
Author: Stefania Cerri
Author: Luca Richeldi

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×