5例炎症性肠病患者的家系调查及其与遗传易感关系分析

目的 探讨我国炎症性肠病患者的遗传易感倾向.方法 在广泛进行流行病学调查的基础上,采用系谱分析方法,对5例具有家族聚集现象的炎症性肠病患者家系进行病史、临床表现、X线、结肠镜及病理组织学检查、治疗状况、家族成员死亡原因、有无近亲结婚史等的详细调查.结果 2个克罗恩病家族分别有兄弟、母子患病;3个溃疡性结肠炎家族分别有姐弟、母子和祖孙三人患病.患者的一级亲属更易受累,同胞受累最多见,其特点是发病年龄较早、后代发病年龄早且病情重.男女均可发病,患病类型相同,病变部位相似.结论 该调查中的炎症性肠病患者存在着遗传易感倾向,发病人数少,推测可能为多基因遗传或常染色体隐性遗传.

Pedigree study of five patients with inflammatory bowel disease and its genetic susceptibility

Objective To investigate the genetic susceptibility to inflammatory bowel disease in China.Methods The pedigree of 5 probands with inflammatory bowel disease (2 with Crohn's disease and 3 with ulcerative colitis) were analyzed including familial history,clinical features,radiographic,endoscopic and pathological findings.A detailed family pedigree and information of the whereabouts of each relative were obtained.Results Crohn's disease was found in 2 families,each with two affected patients (two brothers or mother and a child).Ulcerative colitis was i'ound in 3 families,each with two or more affected patients (an elder sister and younger brother in the first family,mother and a child in the second family and grandparent and 2 grandchildren in the third family ).First-degree relatives were susceptibility to inflammatory bowel disease and siblings were affected more frequently.The member of the later generation was younger at diagnosis than the preceding generation. Offsprings had an earlier onset and more severe than affected parents. A high concordance for type and localization was found between males and females.Conclusions The patients with inflammatory bowel disease have genetic susceptibility and a few member may affect.It may result from multigene or autosomal recessive inheritance.