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乳糜泻:从病因因素到不断发展的诊断方法。

Celiac disease: from etiological factors to evolving diagnostic approaches.

机构信息

Institute for Biomedical Materials and Devices (IBMD), The University of Technology Sydney, Broadway, PO Box 123, Sydney, NSW, 2007, Australia.

School of Life Sciences, The University of Technology Sydney, Broadway, PO Box 123, Sydney, NSW, 2007, Australia.

出版信息

J Gastroenterol. 2017 Sep;52(9):1001-1012. doi: 10.1007/s00535-017-1357-7. Epub 2017 Jun 19.

Abstract

Celiac disease has advanced from a medical rarity to a highly prevalent disorder. Patients with the disease show varying degrees of chronic inflammation within the small intestine due to an aberrant immune response to the digestion of gliadin found in wheat. As a result, cytokines and antibodies are produced in celiac patients that can be used as specific biomarkers for developing diagnostic tests. This review paper describes celiac disease in terms of its etiological cause, pathological effects, current diagnostic tests based on mucosal biopsy, and the genetic basis for the disease. In addition, it discusses the use of gliadin-induced cytokines, antibodies and autoantibodies as a diagnostic tool for celiac disease. Despite good initial results in terms of sensitivity and specificity, when these immunological tests were used on a large scale, even in combination with genetic testing, the results showed lower predictive value. This review addresses that issue and ends with an outlook on future work required to develop diagnostic tests with greater accuracy in predicting celiac disease in the general public, thus avoiding the need for endoscopy and mucosal biopsy.

摘要

乳糜泻已从一种罕见的医学病症发展为一种高度普遍的疾病。由于对小麦中发现的麦胶蛋白消化产生异常免疫反应,该病患者的小肠会出现不同程度的慢性炎症。因此,乳糜泻患者会产生细胞因子和抗体,这些可以作为开发诊断测试的特异性生物标志物。本文综述了乳糜泻的病因、病理作用、基于黏膜活检的现有诊断测试以及该疾病的遗传基础。此外,还讨论了利用麦胶诱导的细胞因子、抗体和自身抗体作为乳糜泻的诊断工具。尽管在敏感性和特异性方面有良好的初步结果,但当这些免疫测试大规模应用时,即使与基因测试结合使用,结果显示预测值也较低。本文综述了这个问题,并展望了未来的工作,需要开发更准确的诊断测试来预测普通人群中的乳糜泻,从而避免进行内镜和黏膜活检的需要。

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