Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Adv Clin Chem. 2013;60:143-85. doi: 10.1016/b978-0-12-407681-5.00005-2.
Gallstone disease (GSD) is one of the most common biliary tract disorders worldwide. The prevalence, however, varies from 5.9-21.9% in Western society to 3.1-10.7% in Asia. Most gallstones (75%) are silent. Approximately half of symptomatic gallstone carriers experience a second episode of biliary pain within 1 year. These individuals are at increased risk of developing acute cholecystitis, acute cholangitis, and biliary pancreatitis. As can be expected, these complications burden health care systems because of their invasive nature and surgical cost. Factors that contribute to gallstone formation include supersaturation of cholesterol in bile, gallbladder hypomotility, destabilization of bile by kinetic protein factors, and abnormal mucins. Epidemiologic studies have implicated multiple environmental factors and some common genetic elements in gallstone formation. Genetic factors that influence gallstone formation have been elaborated from linkage studies of twins, families, and ethnicities. Accumulating evidence suggests that genetic factors play a role in GSD.
胆石病（GSD）是全球最常见的胆道疾病之一。然而，在西方社会，其患病率为 5.9-21.9%，而在亚洲则为 3.1-10.7%。大多数胆石（75%）是无症状的。约有一半有症状的胆石携带者在 1 年内会经历第二次胆道疼痛发作。这些人患急性胆囊炎、急性胆管炎和胆源性胰腺炎的风险增加。可以预见的是，这些并发症因其侵袭性和手术费用而给医疗保健系统带来负担。导致胆石形成的因素包括胆汁中胆固醇的过饱和度、胆囊动力不足、动力学蛋白因素引起的胆汁不稳定以及异常黏蛋白。流行病学研究表明，胆石形成涉及多种环境因素和一些常见的遗传因素。影响胆石形成的遗传因素已从双胞胎、家庭和种族的连锁研究中得到阐述。越来越多的证据表明，遗传因素在 GSD 中起作用。
