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意大利北部炎症性肠病的家族聚集性:一项多中心研究。肠道炎症性疾病研究组(IBD研究组)

Familial aggregation of inflammatory bowel disease in northern Italy: a multicenter study. The Gruppo di Studio per le Malattie Infiammatorie Intestinali (IBD Study Group).

作者信息

Meucci G, Vecchi M, Torgano G, Arrigoni M, Prada A, Rocca F, Curzio M, Pera A, de Franchis R

机构信息

Istituto di Medicina Interna, Milan, Italy.

出版信息

Gastroenterology. 1992 Aug;103(2):514-9. doi: 10.1016/0016-5085(92)90841-l.

DOI:10.1016/0016-5085(92)90841-l
PMID:1634069
Abstract

To assess the familial aggregation of inflammatory bowel disease (IBD) in Italy, the family pedigrees of 411 patients with ulcerative colitis (UC) and 241 patients with Crohn's disease (CD) seen at 14 participating hospitals were studied. Sufficient information was obtained on 97% of 3752 first-degree relatives, 80% of 8869 second-degree relatives, and 74% of 5791 cousins. Thirty-six propositi (5.52%) had a total of 44 affected relatives (16 CD, 28 UC). The prevalence of IBD was higher in first- than in second-degree relatives and cousins (791, 112, and 163 in 100,000, respectively). A strong intrafamilial disease concordance was observed, with 26 cases of UC and 6 of CD among relatives of UC patients and 10 cases of CD and 2 of UC among relatives of CD patients. The prevalence of UC among first-degree relatives of UC patients and that of CD among first-degree relatives of CD patients was 680 and 531 in 100,000, respectively. In conclusion, there is a high degree of familial aggregation for IBD in Italy, with a strong intrafamilial disease concordance.

摘要

为评估意大利炎症性肠病(IBD)的家族聚集性,我们研究了14家参与研究的医院中411例溃疡性结肠炎(UC)患者和241例克罗恩病(CD)患者的家系。我们获得了3752名一级亲属中97%、8869名二级亲属中80%以及5791名表亲中74%的充分信息。36名先证者(5.52%)共有44名患病亲属(16例CD,28例UC)。IBD在一级亲属中的患病率高于二级亲属和表亲(分别为每10万人中791例、112例和163例)。观察到家族内疾病一致性很强,UC患者的亲属中有26例UC和6例CD,CD患者的亲属中有10例CD和2例UC。UC患者一级亲属中UC的患病率以及CD患者一级亲属中CD的患病率分别为每10万人中680例和531例。总之,意大利IBD存在高度的家族聚集性,且家族内疾病一致性很强。

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