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 architect...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2012-10, Vol.7 (1), p.79-79
Main Authors: Spagnolo, Paolo, Luppi, Fabrizio, Cerri, Stefania, Richeldi, Luca
Format: Article
Language:English
Subjects:
Blood circulation disorders
Collagen
Diagnosis
Diffuse parenchymal lung disease
Disease
Diseases
Genes
Genetic aspects
Genetic screening
Genetic Testing
Genetics
Humans
Idiopathic pulmonary fibrosis
Italy
Lung diseases
Lung Diseases - diagnosis
Lung Diseases - genetics
Lungs
Medical research
Proteins
Rare diseases
Review
Sarcoidosis
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Description
Summary: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.
ISSN:1750-1172
1750-1172
DOI:10.1186/1750-1172-7-79