胆囊结石病家系遗传特征的初步研究

Primary study on inheritant characteristics in cholelithiasis pedigrees

目的 :探讨胆囊结石病家系的遗传特征。方法 :胆囊结石病家系定义为家系内至少有 2名患者 ;采用B超检查和问卷调查方式了解上海地区胆石病家系成员的疾病史和发病情况 ,系谱分析胆石病的遗传特点。结果 :被调查家系总数 93个 ,涵盖家庭成员 5 6 3人 ,患者总数 30 4人 ,患病率达 5 4 .0 %。女性患病率(占 6 1.0 % )显著高于男性 (占 4 4 .3% ) (P =0 .0 0 3)。 6 4个家系含有≥ 3个患者 (即 6 7.7%的胆石病先证者 )具有两名以上 (含两名 )胆石病一级亲属 ;双亲之一或两者均为胆石病患者的家系占 74 .2 % ;先证者的同胞患病率达 5 8.0 % ,双生子均发病 ;年龄大于 6 0周岁的先证者 ,其子女的胆石病患病率达 5 9.0 %。胆石病家系中有高脂血症家族史为 36 .6 % ,高血压家族史为 6 6 .7% ,糖尿病家族史为 2 9.0 %。男女性别间的子代发病率无差异 ,男性受遗传因素的影响可能性较大 ,母亲对后代的影响大于父亲。结论 :胆石病是多基因遗传疾病 ,存在明显的家族聚集性 ,具有常染色体显性延迟遗传的特点 ,与代谢相关的多基因疾病关系密切。

Objective:To explore the inheritant characteristics of pedigrees with cholelithiasis.Methods:The pedigrees with cholelithiasis in Shanghai were studied,each containing at least two patients with gallstones in gallbladder examined by B type ultrasonograghy. Medical history and related information were recorded. The inheritant characteristics were discussed by pedigrees analysis.Results:There were 93 gallstone pedigrees,including 239 patients with gallstones and 563 without gallstones. The prevalence of gallstones was 54.0%. It was higher in female(61.0%) than in male(44.3%)(P=0.003). Sixty four pedigrees contained 3 patients or more. There was at least one parent with gallstone in 74.2% of pedigrees. The prevalence was 58.0% in brother and sister of proband and all the twins were gallstone patients. The prevalence of filial generation with gallstone was 59.0% when the proband was more than 60 years old. There was 36.6% of the pedigrees with hyperlipidemia history,66.7% with hypertension history and 29.0% with diabetes history. The incidence in the second generation is quite high in both son and daughter. Inheritant factor had more effective in male and there was higher prevalence in pedigrees with mothers with gallstones than in those with fathers with gallstones.Conclusion:Cholelithiasis is regarded as a polygenetic disease with obvious familial aggregation and some characteristics of autosomal dominant inheritance and associated with metabolic polygenetic disease.