Familial primary biliary cirrhosis reassessed: a geographically-based population study
Familial primary biliary cirrhosis reassessed: a geographically-based population study
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DOI：
10.1016/s0168-8278(99)80097-x
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发表时间：
1999-03-01
影响因子：
25.7
通讯作者：
James, OFW
中科院分区：
文献类型：
--
作者：
Jones, DEJ;Watt, FE;James, OFW
背景/目标：原发性胆汁性肝硬化患者的近亲发生原发性胆汁性肝硬化已有多个系列报道，提示疾病易感性的遗传因素。在本研究中，我们着手尽可能准确地计算地理区域人群中家族性原发性胆汁性肝硬化的患病率。使用当地人口的患病率数据，我们还计算了一级相对，兄弟姐妹和后代的相对风险明显的原发性胆汁性肝硬化development.Methods：明确或可能的原发性胆汁性肝硬化的所有患者在城市的纽卡斯尔，泰恩河畔，英格兰，确定了详尽的病例发现搜索和前瞻性采访了一个单一的调查。完整的家庭系谱和家族原发性胆汁性肝硬化病史的详细资料被获得。结果：173例患者被确定，160人参加了这项研究。13例报告有原发性胆汁性肝硬化家族史。在三个案例中，两对亲属都在研究组内。因此，原发性胆汁性肝硬化阳性家族史的患病率为10/ 157（6.4% [95%置信区间2.6-10.2%]），8/10例病例发生在一级亲属中。这些患者共有1118名一级亲属（已死亡或死亡）和468名兄弟姐妹。原发性胆汁性肝硬化的一级相对患病率为0.72% [0.2-1.2%]（同胞为0.41% [-0.2-1.0%]）。子女患病率为1.2% [0.04-2.4%]，女儿患病率为2.3% [0.1-4.5%]。同胞相对危险度（lambda（s））为10.5。结论：现有患者的一级亲属中明确或可能的原发性胆汁性肝硬化的总体患病率为
Background/Aims: Development of primary biliary cirrhosis in the close relatives of patients with the disease has been reported in several series, suggesting a genetic component to disease susceptibility. In this study we set out to calculate, as accurately as possible, the prevalence of familial primary biliary cirrhosis in a geographically-based population. Using local population prevalence data, we have also calculated the first-degree relative, sibling and offspring relative risks of overt primary biliary cirrhosis development.Methods: All patients with definite or probable primary biliary cirrhosis in the city of Newcastle-upon-Tyne, England, were identified by an exhaustive case-finding search and were prospectively interviewed by a single investigator. Full details of family pedigree and familial primary biliary cirrhosis history were obtained.Results: One hundred and seventy-three patients were identified, with 160 participating in the study. Thirteen reported a family history of primary biliary cirrhosis. In three cases, both relative pairs were within the study group. The prevalence of a positive family history of primary biliary cirrhosis was therefore 10/ 157 (6.4% [95% Confidence Interval 2.6-10.2%]), 8/10 cases occurring in first-degree relatives. The patients had a total of 1118 first-degree relatives Give or dead) and 468 siblings. The first-degree relative prevalence of primary biliary cirrhosis was 0.72% [0.2-1.2%] (siblings 0.41% [-0.2-1.0%]). The offspring prevalence was 1.2% [0.04-2.4%], (2.3% [0.1-4.5%] for daughters). The sibling relative risk (lambda(s)) was 10.5.Conclusions: The overall prevalence of definite or probable primary biliary cirrhosis in the first-degree relatives of existing patients is