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家族性结节病:一位母亲和她儿子的病例报告。

Familial sarcoidosis: Report of a mother and her son.

作者信息

Akyıldız Ekin, Kobak Şenol

机构信息

Department of Internal Medicine, Katip Çelebi University School of Meidicine, İzmir, Turkey.

Department of Rheumatology, İstinye University School of Medicine, İstanbul, Turkey.

出版信息

Eur J Rheumatol. 2017 Dec;4(4):284-287. doi: 10.5152/eurjrheum.2017.17029. Epub 2017 Oct 25.

Abstract

Sarcoidosis is a chronic, multisystemic inflammatory disease, characterized with noncaseating granulomas. The pathogenesis of the disease is not yet clear, however, the main hypothesis is impaired and inadequate immune response developing against different environmental triggers in genetically predisposed people. The role of genetic factors in the development of sarcoidosis is well known. Over many years, familial sarcoidosis cases have been reported in various studies. In this report, we present familial sarcoidosis cases in a mother and her son.

摘要

结节病是一种慢性多系统炎症性疾病,其特征为非干酪样肉芽肿。该病的发病机制尚不清楚,然而,主要假说是在遗传易感性个体中,针对不同环境触发因素的免疫反应受损且不充分。遗传因素在结节病发病中的作用已为人所知。多年来,在各种研究中均有家族性结节病病例的报道。在本报告中,我们呈现了一位母亲及其儿子患家族性结节病的病例。

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本文引用的文献

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Prevalence and significance of MEFV gene mutations in patients with sarcoidosis.结节病患者中MEFV基因突变的患病率及意义
Scand J Rheumatol. 2016;45(3):215-8. doi: 10.3109/03009742.2015.1092580. Epub 2015 Nov 17.

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