Abstract:
:Identifying genetic determinants of pulmonary fibrosis is at an early stage of evolution. It is now well recognized that "pulmonary fibrosis" covers a broad range of lung diseases including most topically the idiopathic interstitial pneumonias that have been classified recently. Additionally, it is recognized that the diffuse lung diseases of children that may progress to fibrosis are quite different from those of adults. Defining clinical phenotype is an absolute prerequisite to precise identification of genetic determinants, and this is at least part of the reason why we understand relatively little of these genetic determinants to date. In children, a number of mutations have been identified, particularly with regard to surfactant protein. In adults, families with idiopathic pulmonary fibrosis are being collected but there are no genetic data on these at this point. In sporadic disease, associations have been reported in early phase genes with disease predisposition and also, importantly, with disease severity: future studies will inevitably incorporate issues of severity of disease in analyses.
journal_name
Semin Respir Crit Care Medjournal_title
Seminars in respiratory and critical care medicineauthors
du Bois RM,Kangesan I,Veeraraghavan Sdoi
10.1055/s-2003-39019keywords:
subject
Has Abstractpub_date
2003-04-01 00:00:00pages
205-12issue
2eissn
1069-3424issn
1098-9048journal_volume
24pub_type
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