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胶原性结肠炎的家族性发病。两个家族的报告。

Familial occurrence of collagenous colitis. A report of two families.

作者信息

van Tilburg A J, Lam H G, Seldenrijk C A, Stel H V, Blok P, Dekker W, Meuwissen S G

机构信息

Department of Gastroenterology, Free University Hospital, Amsterdam, The Netherlands.

出版信息

J Clin Gastroenterol. 1990 Jun;12(3):279-85. doi: 10.1097/00004836-199006000-00009.

Abstract

Collagenous colitis is a rare condition characterized clinically by chronic diarrhea and histologically by a thickened subepithelial collagenous band in colonic biopsies in an endoscopically normal colon. Familial occurrence of collagenous colitis has to our knowledge never been described. Here we report two families in which two first-degree related members suffered from collagenous colitis. In one family, two sisters were affected by chronic diarrhea and autoimmune disorders such as thyroid disease, rheumatoid arthritis, and pernicious anemia. Collagenous colitis was diagnosed in one of these sisters, based on colonic biopsies. Colonic biopsies of the other sister showed microscopic colitis. Review of colonic biopsies of this patient taken 11 years earlier, however, showed definite histological features of collagenous colitis. In the other family, in a father and son, both with diarrhea for several years but not suffering from any other diseases, a diagnosis of collagenous colitis was made on colonic biopsies. Human leukocyte antigen (HLA) typing showed that only the HLA A2 antigen was present in all 4 patients.

摘要

胶原性结肠炎是一种罕见疾病,临床特征为慢性腹泻,组织学特征为结肠镜检查正常的结肠活检中出现上皮下胶原带增厚。据我们所知,从未有过胶原性结肠炎家族发病的描述。在此我们报告两个家族,其中两个一级亲属患有胶原性结肠炎。在一个家族中,两姐妹患有慢性腹泻及自身免疫性疾病,如甲状腺疾病、类风湿关节炎和恶性贫血。其中一名姐妹经结肠活检确诊为胶原性结肠炎。另一名姐妹的结肠活检显示为显微镜下结肠炎。然而,回顾该患者11年前的结肠活检,显示出明确的胶原性结肠炎组织学特征。在另一个家族中,父子二人都腹泻数年,但未患其他疾病,经结肠活检诊断为胶原性结肠炎。人类白细胞抗原(HLA)分型显示,所有4例患者均仅存在HLA A2抗原。

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