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自身免疫性疾病诊断的未来展望。

Future perspective for diagnosis in autoimmune diseases.

作者信息

Andrade Luis E C

机构信息

Divisão de Reumatologia, Universidade Federal de São Paulo, Escola de Medicina, São Paulo, SP, Brasil.

出版信息

An Acad Bras Cienc. 2009 Sep;81(3):367-80. doi: 10.1590/s0001-37652009000300004.

Abstract

Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such as anatomy, microbiology, biochemistry, physiology, immunology, pathology, and pharmacology. The resulting integrated knowledge contributed to the current classification of diseases and the way Medicine is carried out today. Despite considerable progress, this approach is rather insufficient when it comes to systemic inflammatory conditions, such as systemic lupus erythematosus, that covers clinical conditions ranging from mild pauci-symptomatic diseases to rapidly fatal conditions. The treatment for such conditions is often insufficient and novel approaches are needed for further progress in these areas of Medicine. A recent breakthrough has been achieved with respect to chronic auto-inflammatory syndromes, in which molecular dissection of underlying gene defects has provided directions for target-oriented therapy. Such approach may be amenable to application in systemic auto-immune diseases with the comprehension that such conditions may be the consequence of interaction of specific environmental stimuli and an array of several and interconnected gene polymorphisms. On the bulk of this transformation, the application of principles of pharmacogenetics may lead the way towards a progressively stronger personalized Medicine.

摘要

人类在对疾病的理解和管理方面采取了一系列方法。最初源于超自然概念和神秘程序,基于解剖学、微生物学、生物化学、生理学、免疫学、病理学和药理学等基础学科,一种强有力的科学方法应运而生。由此产生的综合知识促成了当前疾病的分类以及当今医学的实施方式。尽管取得了相当大的进展,但在系统性炎症性疾病方面,这种方法还相当不足,比如系统性红斑狼疮,它涵盖了从轻度少症状疾病到迅速致命疾病的各种临床情况。针对这类疾病的治疗往往并不充分,在这些医学领域需要新的方法来取得进一步进展。在慢性自身炎症综合征方面最近取得了一项突破,其中对潜在基因缺陷的分子剖析为靶向治疗提供了方向。这种方法可能适用于系统性自身免疫性疾病,因为人们认识到这类疾病可能是特定环境刺激与一系列多个相互关联的基因多态性相互作用的结果。基于这种转变,药物遗传学原理的应用可能会引领走向日益强大的个性化医学之路。

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