Carbone Marco, Ronca Vincenzo, Bruno Savino, Invernizzi Pietro, Mells George F
Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom; MRC Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom; Liver Unit, Humanitas Clinical and Research Institute, Rozzano (Milan), Italy.
Liver Unit, Humanitas Clinical and Research Institute, Rozzano (Milan), Italy.
Dig Liver Dis. 2016 Aug;48(8):843-50. doi: 10.1016/j.dld.2016.05.023. Epub 2016 Jun 3.
Primary biliary cholangitis is a chronic, cholestatic liver disease characterized by a heterogeneous presentation, symptomatology, disease progression and response to therapy. In contrast, clinical management and treatment of PBC is homogeneous with a 'one size fits all' approach. The evolving research landscape, with the emergence of the -omics field and the availability of large patient cohorts are creating a unique opportunity of translational epidemiology. Furthermore, several novel disease and symptom-modifying agents for PBC are currently in development. The time is therefore ripe for precision medicine in PBC. In this manuscript we describe the concept of precision medicine; review current approaches to risk-stratification in PBC, and speculate how precision medicine in PBC might develop in the near future.
原发性胆汁性胆管炎是一种慢性胆汁淤积性肝病，其特征为表现形式、症状、疾病进展及对治疗的反应存在异质性。相比之下，原发性胆汁性胆管炎的临床管理和治疗采用“一刀切”的方法，较为单一。随着“组学”领域的出现以及大量患者队列的可得性，不断发展的研究格局正创造着转化流行病学的独特机遇。此外，目前有几种用于原发性胆汁性胆管炎的新型疾病和症状改善药物正在研发中。因此，原发性胆汁性胆管炎的精准医学时代已经成熟。在本手稿中，我们描述了精准医学的概念；回顾了原发性胆汁性胆管炎目前的风险分层方法，并推测原发性胆汁性胆管炎的精准医学在不久的将来可能如何发展。
