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弥漫性肺疾病:遗传易感性与环境接触的产物。

Diffuse lung disease: product of genetic susceptibility and environmental encounters.

作者信息

Lympany P A, du Bois R M

机构信息

Department of Occupational and Environmental Medicine, Imperial College School of Medicine at the National Heart and Lung Institute, London, UK.

出版信息

Thorax. 1997 Jan;52(1):92-4. doi: 10.1136/thx.52.1.92.

Abstract

Diffuse (interstitial) lung disease comprises a wide variety of conditions, individually relatively uncommon but collectively being found in approximately 50 per 100,000 population. Some of these diseases are of known aetiology but others are not. It has been suggested that the environment is a major contributory factor in this group of diseases. However, since not all individuals exposed to a common environment develop interstitial diseases, it can be hypothesised that there is a genetic predisposition to their development. These diseases cause major morbidity and mortality due to lung injury and fibrosis. It follows that, if individuals who are genetically predisposed to develop diseases characterised by lung injury and fibrosis can be identified, then management strategies can be designed which will attempt to identify and treat early disease and, in the longer term, to develop targeted genetic interventional approaches to treatment.

摘要

弥漫性(间质性)肺病包含多种病症,每种病症相对不常见,但总体上每10万人中约有50人患病。其中一些疾病病因已知,但其他一些病因不明。有人认为环境是这组疾病的主要促成因素。然而,由于并非所有暴露于共同环境的个体都会患上间质性疾病,因此可以推测存在导致这些疾病发生的遗传易感性。这些疾病由于肺损伤和纤维化而导致严重的发病和死亡。因此,如果能够识别出具有发生以肺损伤和纤维化为特征的疾病的遗传易感性个体,那么就可以设计管理策略,试图识别和早期治疗疾病,并从长远来看,开发针对性的基因介入治疗方法。

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本文引用的文献

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The geneticist's approach to complex disease.遗传学家对复杂疾病的研究方法。
Annu Rev Med. 1996;47:333-53. doi: 10.1146/annurev.med.47.1.333.
4
Genetics of scleroderma.硬皮病的遗传学
Clin Dermatol. 1994 Jul-Sep;12(3):337-47. doi: 10.1016/0738-081x(94)90286-0.
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Autoantibodies in systemic sclerosis.系统性硬化症中的自身抗体
Int Rev Immunol. 1995;12(2-4):145-57. doi: 10.3109/08830189509056709.

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