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首页> 外文期刊>Trends in Ecology & Evolution >Concordance regarding disease type and phenotypic characteristics among patients with familial inflammatory bowel disease
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Concordance regarding disease type and phenotypic characteristics among patients with familial inflammatory bowel disease

机译：关于家族性炎症肠疾病患者疾病类型和表型特征的一致性

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Background and Aims The phenotypic concordance among familial cases of inflammatory bowel disease (IBD) has been rarely reported. Thus, the present study aimed to evaluate the concordance regarding disease type and phenotypic features in a large cohort of Korean patients with IBD. Methods A total of 6647 patients with IBD who visited the Asan Medical Center between June 1989 and September 2016 were enrolled in the study. When at least two familial cases existed in our cohort, they were included in the concordance analysis (kappa index). The concordance between younger and older members for IBD type [Crohn's disease (CD) and ulcerative colitis (UC)] and phenotypic characteristics such as disease extent and location, disease behavior, the use of medication, and need for surgery were evaluated. Results A positive family history of IBD was noted in 216 patients with CD (7.0%) and in 238 patients with UC (6.7%). Of all patients, 167 consanguineous pairs in 146 families were identified. The crude concordance rate for IBD type was 82.6% with a kappa index of 0.656 [95% confidence interval (CI): 0.545-0.768, good concordance]. There was mild concordance for disease location in CD (kappa = 0.256; 95% CI: 0.007-0.505) and for the use of antitumor necrosis factor agents in UC (kappa = 0.354; 95% CI: -0.049-0.757). The concordance for IBD type and several phenotypes in first-degree relative pairs was better than that in the entire pairs. Conclusions Disease type and phenotypic characteristics of patients with familial IBD may be anticipated.
机译：背景技术很少报道炎症性肠病（IBD）的家族性病例中的表型一致性。因此，本研究旨在评估关于韩国IBD患者的疾病类型和表型特征的一致性。方法共有6647名IBD患者于1989年6月和2016年9月在2016年至9月期间参观了Asan Medical Center。当我们的队列中至少存在两个家庭病例时，它们被包含在一致性分析（Kappa指数）中。对IBD型[CROHN疾病（CD）和溃疡性结肠炎（UC）]和疾病程度和位置，疾病行为，药物的使用等表型特征进行了一致性评估了。结果216名镉（7.0％）和238例UC患者（6.7％）患有216名患者的阳性家族史。在所有患者中，鉴定了146个家庭的167对。 IBD型的粗齐全率为82.6％，Kappa指数为0.656 [95％置信区间（CI）：0.545-0.768，良好的一致性]。 CD中的疾病位置有轻微的一致性（Kappa = 0.256; 95％CI：0.007-0.505）和在UC中使用抗肿瘤坏死因子剂（Kappa = 0.354; 95％Ci：-0.049-0.757）。 IBD类型的一致性和一定程度相对对的几种表型比整个对中的更好。结论可以预期家族IBD患者的疾病类型和表型特征。

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