In this section
@article{Marshall:1998,
author = {Marshall, R and Puddicombe, A and Dinwiddie, R and Crawford, O and McAnulty, R and Cookson, W and Laurent, GJ},
journal = {Thorax},
title = {Familial pulmonary fibrosis in the UK},
volume = {53},
year = {1998}
}
TY - JOUR
AB - A number of observations suggest a genetic influence in pulmonary fibrosis including the variation in response to profibrotic agents observed in both humans and certain animal strains. A rare familial form is well documented in the literature. However, no systematic investigation of the epidemiology of this disorder has been performed to our knowledge. We contacted 407 Adult Respiratory Physicians and also Respiratory Paediatricians in the UK to identify and characterise families in which two or more individuals have IPF. Occupational, clinical data and a family pedigree was obtained via a structured questionnaire. 84% of Adult Physicians responded identifying 63 individuals from 24 families to date. In adults, the average age of diagnosis was 56 years with an equal sex incidence. 74 % of patients had lived for the larger part of their lives in the Midlands, North or North-East of England. 44% had a potential occupational exposure to fibrogenic duts and 50% were never smokers. Inheritance, appears to be autosomal recessive. In an additional seven families, the onset of the disease occurred in infancy or childhood with a possible autosomal dominant mode of inheritance. Clinical parameters such as; symptomatology, natural history radiological and histological appearance were very similar to those seen in non-familial cases. Familial clustering in IPF is very rare in the UK. A genetic influence is suggested but not yet confirmed in 1-2 % of cases. The strength and exact mode of inheritance of a genetic predisposition remains to be determined however, its similarity to IPF and amenability to study using positional cloning techniques make this group an important target for genetic studies. We would like to identify further families in Europe.
AU - Marshall,R
AU - Puddicombe,A
AU - Dinwiddie,R
AU - Crawford,O
AU - McAnulty,R
AU - Cookson,W
AU - Laurent,GJ
PY - 1998///
SN - 0040-6376
TI - Familial pulmonary fibrosis in the UK
T2 - Thorax
VL - 53
ER -
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