Selmi Carlo, Affronti Andrea, Ferrari Laura, Invernizzi Pietro
Carlo Selmi, Pietro Invernizzi, Division of Internal Medicine and Hepatobiliary Immunopathology Unit, IRCCS Istituto Clinico Humanitas, Rozzano 20089, Italy.
World J Gastrointest Pathophysiol. 2010 Oct 15;1(4):118-28. doi: 10.4291/wjgp.v1.i4.118.
Autoimmune cholangitis would be the appropriate name to define the immune-mediated bile duct injury following the breakdown of tolerance to mitochondrial proteins and the appearance of serum autoantibodies and autoreactive T cells. Nevertheless, the condition is universally named primary biliary cirrhosis (PBC). The disease etiology and pathogenesis remain largely unknown despite the proposed lines of evidence. One twin study and numerous epidemiology reports suggest that both a susceptible genetic background and environmental factors determine disease onset while a recent genome-wide association study proposed highly significant associations with several common genetic polymorphisms in subgroups of patients. Specific infectious agents and chemicals may contribute to the disease onset and perpetuation in a genetically susceptible host, possibly through molecular mimicry. Importantly, several murine models have been proposed and include strains in which PBC is genetically determined or induced by immunization with chemicals and bacteria. From a pathogenetic standpoint, new exciting data have demonstrated the unique apoptotic features of bile duct cells that allow the mitochondrial autoantigens to be taken up in their intact form within apoptotic blebs. We are convinced that the application of the most recent molecular techniques will soon provide developments in PBC etiology and pathogenesis with likely implications in diagnostics and therapeutics.
自身免疫性胆管炎是在对线粒体蛋白的耐受性破坏以及血清自身抗体和自身反应性T细胞出现后,用于定义免疫介导的胆管损伤的合适名称。然而,这种病症普遍被称为原发性胆汁性肝硬化(PBC)。尽管有相关证据,但该病的病因和发病机制仍 largely 未知。一项双胞胎研究和众多流行病学报告表明,遗传易感性背景和环境因素都决定疾病的发作,而最近一项全基因组关联研究提出,在患者亚组中与几种常见基因多态性存在高度显著关联。特定的感染因子和化学物质可能通过分子模拟,在遗传易感性宿主中促成疾病的发作和持续。重要的是,已经提出了几种小鼠模型,包括PBC由基因决定或通过化学物质和细菌免疫诱导的品系。从发病机制的角度来看,新的令人兴奋的数据表明胆管细胞具有独特的凋亡特征,使得线粒体自身抗原能够以完整形式在凋亡小泡中被摄取。我们相信,最新分子技术的应用将很快在PBC的病因和发病机制方面取得进展,可能对诊断和治疗产生影响。 (注:“largely”此处翻译为“很大程度上”,但结合语境感觉表述不太准确,原文表述可能有误,推测可能是“largely unknown”应是“largely unexplained”,意为“很大程度上未得到解释” )