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精准医学在小儿炎症性肠病中的应用

Precision Medicine in Pediatric Inflammatory Bowel Disease.

机构信息

Department of Pediatrics, Mount Sinai Kravis Children's Hospital, Susan and Leonard Feinstein Inflammatory Bowel Disease Clinical Center, Mount Sinai Hospital, Icahn School of Medicine, 1 Gustave L. Levy Place, Box 1656, New York, NY 10029, USA.

Department of Pediatrics, Mount Sinai Kravis Children's Hospital, Susan and Leonard Feinstein Inflammatory Bowel Disease Clinical Center, Mount Sinai Hospital, Icahn School of Medicine, 1 Gustave L. Levy Place, Box 1656, New York, NY 10029, USA.

出版信息

Pediatr Clin North Am. 2021 Dec;68(6):1171-1190. doi: 10.1016/j.pcl.2021.07.011.

Abstract

Inflammatory bowel disease (IBD) describes a heterogenous group of diseases characterized by chronic inflammation of the intestinal tract. The IBD subtypes, Crohn's disease, ulcerative colitis, and IBD-Unspecified, each have characteristic features, but heterogeneity remains even among the subtypes. There has been an explosion of new knowledge on the possible pathogenesis of IBD over the last 2 decades mirroring innovation and refinement in technology, particularly the generation of large scale - "-omic" data. This knowledge has fostered a veritable renaissance of novel diagnostics, prognostics, and therapeutics, with patients with IBD seeing hope bloom in the increasingly large armamentarium of IBD therapies. However, while there are increased numbers of therapies and more pathways being targeted, the number of medications for IBD is still finite and the efficacy has reached a plateau. Precision medicine (PM) is much needed to rationally select and optimize IBD therapies in the new reality of wider but still limited choice with a concurrent, increasingly fine resolution on the significance and utility of clinical, genetic, microbial, and proteomic characteristics that define individual patients. PM is a rapidly changing art, but this review will strive to detail the current state and future directions of PM in pediatric IBD.

摘要

炎症性肠病 (IBD) 是一组异质性疾病,其特征为肠道慢性炎症。IBD 的亚型包括克罗恩病、溃疡性结肠炎和未特指的 IBD,每种疾病都有其特征性表现,但即使在亚型之间也存在异质性。在过去的 20 年中,随着技术的创新和完善,特别是大规模“组学”数据的产生,关于 IBD 可能发病机制的新知识呈爆炸式增长。这种知识促进了新型诊断、预后和治疗方法的真正复兴,IBD 患者在 IBD 治疗方法的武器库中看到了希望的曙光。然而,尽管治疗方法的数量有所增加,靶向的途径也更多,但 IBD 的药物数量仍然有限,疗效已达到平台期。精准医学 (PM) 非常需要在新的现实中合理选择和优化 IBD 治疗方法,这种新的现实是可供选择的药物范围更广,但仍然有限,同时对临床、遗传、微生物和蛋白质组学特征的意义和用途的分辨率也越来越高,这些特征定义了个体患者。PM 是一门快速发展的艺术,但本综述将努力详细介绍儿科 IBD 中 PM 的现状和未来方向。

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