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肝病诊断与建模的新方法。

Novel approaches to liver disease diagnosis and modeling.

作者信息

Oliveira André G, Fiorotto Romina

机构信息

Department of Physiology and Biophysics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Department of Internal Medicine, Section of Digestive Diseases, Yale University School of Medicine, New Haven, USA.

出版信息

Transl Gastroenterol Hepatol. 2021 Apr 5;6:19. doi: 10.21037/tgh-20-109. eCollection 2021.

Abstract

Lack of a prompt and accurate diagnosis remains on top of the list of challenges faced by patients with rare liver diseases. Although rare liver diseases affect a significant percentage of the population as a group, when taken singularly they represent unique diseases and the approaches used for diagnosis of common liver diseases are insufficient. However, the development of new methods for the acquisition of molecular and clinical data (i.e., genomic, proteomics, metabolomics) and computational tools for their analysis and integration, together with advances in modeling diseases using stem cell-based technology [i.e., induced pluripotent stem cells (iPSCs) and tissue organoids] represent a promising and powerful tool to improve the clinical management of these patients. This is the goal of precision medicine, a novel approach of modern medicine that aims at delivering a specific treatment based on disease-specific biological insights and individual profile. This review will discuss the application and advances of these technologies and how they represent a new opportunity in hepatology.

摘要

对于患有罕见肝脏疾病的患者来说,缺乏及时准确的诊断仍然是他们面临的诸多挑战之首。尽管罕见肝脏疾病作为一个整体影响着相当比例的人群,但单一来看,它们是独特的疾病,用于诊断常见肝脏疾病的方法并不足以诊断这些罕见病。然而,获取分子和临床数据(即基因组学、蛋白质组学、代谢组学)的新方法以及用于分析和整合这些数据的计算工具的开发,再加上利用基于干细胞的技术(即诱导多能干细胞和组织类器官)进行疾病建模方面的进展,代表了一种有前景且强大的工具,可用于改善这些患者的临床管理。这就是精准医学的目标,精准医学是现代医学的一种新方法,旨在基于疾病特异性的生物学见解和个体特征提供特定的治疗。本综述将讨论这些技术的应用和进展,以及它们如何为肝病学带来新机遇。

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