Department of Medicine II, Saarland University Medical Center, Saarland University, Kirrberger Str. 100, 66424 Hamburg, Germany.
Royal Free Campus, University College London Medical School, 9th Floor, Royal Free Hospital, Rowland Hill Street, London NW3 2PF, UK.
Nat Rev Dis Primers. 2016 Apr 28;2:16024. doi: 10.1038/nrdp.2016.24.
Gallstones grow inside the gallbladder or biliary tract. These stones can be asymptomatic or symptomatic; only gallstones with symptoms or complications are defined as gallstone disease. Based on their composition, gallstones are classified into cholesterol gallstones, which represent the predominant entity, and bilirubin ('pigment') stones. Black pigment stones can be caused by chronic haemolysis; brown pigment stones typically develop in obstructed and infected bile ducts. For treatment, localization of the gallstones in the biliary tract is more relevant than composition. Overall, up to 20% of adults develop gallstones and >20% of those develop symptoms or complications. Risk factors for gallstones are female sex, age, pregnancy, physical inactivity, obesity and overnutrition. Factors involved in metabolic syndrome increase the risk of developing gallstones and form the basis of primary prevention by lifestyle changes. Common mutations in the hepatic cholesterol transporter ABCG8 confer most of the genetic risk of developing gallstones, which accounts for ∼25% of the total risk. Diagnosis is mainly based on clinical symptoms, abdominal ultrasonography and liver biochemistry tests. Symptoms often precede the onset of the three common and potentially life-threatening complications of gallstones (acute cholecystitis, acute cholangitis and biliary pancreatitis). Although our knowledge on the genetics and pathophysiology of gallstones has expanded recently, current treatment algorithms remain predominantly invasive and are based on surgery. Hence, our future efforts should focus on novel preventive strategies to overcome the onset of gallstones in at-risk patients in particular, but also in the population in general.
胆囊或胆道内形成的结石称为胆石。胆石可以没有症状,也可以有症状;只有出现症状或并发症的胆石才被定义为胆石病。根据其成分,胆石可分为胆固醇胆石,这是主要类型,以及胆红素(“色素”)胆石。黑色胆色素结石可由慢性溶血性疾病引起;棕色胆色素结石通常在梗阻和感染的胆管中形成。在治疗方面,胆石在胆道中的定位比成分更重要。总体而言,20%的成年人会发生胆石症,其中超过 20%的人会出现症状或并发症。胆石症的危险因素包括女性、年龄、妊娠、缺乏体力活动、肥胖和营养过剩。代谢综合征相关的因素会增加发生胆石症的风险,这是通过生活方式改变进行一级预防的基础。肝脏胆固醇转运蛋白 ABCG8 的常见突变赋予了发生胆石症的大部分遗传风险,约占总风险的 25%。诊断主要基于临床症状、腹部超声和肝功能检查。症状通常先于胆石症的三种常见且潜在危及生命的并发症(急性胆囊炎、急性胆管炎和胆源性胰腺炎)出现。尽管我们最近对胆石症的遗传学和病理生理学有了更多的了解,但当前的治疗方案仍然主要是侵入性的,并且基于手术。因此,我们未来的努力应侧重于新型预防策略,以预防高危患者,特别是一般人群中胆石症的发生。