Lashner B A, Evans A A, Kirsner J B, Hanauer S B
Gastroenterology. 1986 Dec;91(6):1396-400. doi: 10.1016/0016-5085(86)90193-9.
To determine the risk of having or developing inflammatory bowel disease (IBD) in a family member of an IBD patient, a population of 245 IBD probands was randomly selected from the University of Chicago IBD Registry and their family history was elucidated by questionnaire and follow-up telephone call. One hundred seventy-nine (73%) probands responded to the questionnaire. There were no demographic distinctions between those eligible for the study, those who were complete responders, those who were nonresponders, and those with a positive family history of IBD. Fifty-four family members from 40 proband families (22%) had confirmed IBD. Prevalence of IBD in family members at the time of diagnosis of the proband was highest for parents (4.6%), siblings (2.6%), and children (1.9%). Grandparents, aunts and uncles, and first cousins had prevalence of IBD of less than 1%. Incident case frequency was determined by dividing the number of cases incident after the diagnosis of the proband by all those ever at risk. The incident case frequency was highest for siblings (1.9%), parents (1.0%), and children (1.0%). There was concordance noted for type of disease in the proband and the relative. No association could be discerned between the familial risk of IBD and gender, race, or religion of the proband. Despite a high occurrence rate of proband families with IBD, the specific risk to first, second, or third degree family members is low.
为了确定炎症性肠病（IBD）患者家庭成员患IBD或患IBD的风险，从芝加哥大学IBD登记处随机选取了245名IBD先证者，并通过问卷调查和后续电话随访来阐明他们的家族史。179名（73%）先证者对问卷做出了回应。在符合研究条件的人群、完全回应者、无回应者以及有IBD家族史阳性者之间，没有人口统计学差异。来自40个先证者家庭的54名家庭成员（22%）确诊患有IBD。在先证者确诊时，IBD在家庭成员中的患病率在父母中最高（4.6%），在兄弟姐妹中为（2.6%），在子女中为（1.9%）。祖父母、姑姑和叔叔以及第一代堂兄弟姐妹的IBD患病率低于1%。发病病例频率通过将先证者确诊后发病的病例数除以所有有风险的人来确定。发病病例频率在兄弟姐妹中最高（1.9%），在父母中为（1.0%），在子女中为（1.0%）。先证者和亲属的疾病类型存在一致性。IBD的家族风险与先证者的性别、种族或宗教之间没有关联。尽管有IBD的先证者家庭发生率很高，但一级、二级或三级家庭成员的具体风险较低。
