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个性化医疗:单基因糖尿病

Personalized Medicine: Monogenic Diabetes.

作者信息

Goulden Peter A, Vengoechea Jaime, McKelvey Kent

出版信息

J Ark Med Soc. 2015 Sep;112(5):58-9.

Abstract

Personalized medicine in diabetes is a topic which has gained significant momentum in recent years (Raz et al. 2013). A rapid rise in the number and combinations of diabetes therapies coupled with an unprecedented rise in diabetes prevalence rates has necessitated diabetes guidelines which emphasize the need for personalized patient-centered care (ADA 2014). There are many questions regarding the role genetics may be able to play in guiding therapy. Recent pharmacogenetic research has revealed polymorphisms that may impact patient response to metformin (Dong et al 2011) and glucagon-like-polypeptide-1 therapies (Smushkin et al. 2012). This may hold promise for helping identify patients who will better respond to specific agents and in the longer-term may help ensure a smooth journey along the therapeutic pathway. Monogenic or "single-gene" diabetes comprises nearly 2% of all cases of type 2 diabetes and provides a model for individualizing care. This review will discuss the diagnosis and treatment of this condition.

摘要

糖尿病个性化医疗是近年来获得显著发展动力的一个话题(拉兹等人,2013年)。糖尿病治疗方法的数量和组合迅速增加,再加上糖尿病患病率前所未有的上升,这就需要糖尿病指南强调以患者为中心的个性化护理的必要性(美国糖尿病协会,2014年)。关于遗传学在指导治疗中可能发挥的作用,存在许多问题。最近的药物遗传学研究已经揭示了可能影响患者对二甲双胍反应的多态性(董等人,2011年)以及胰高血糖素样肽-1疗法(斯穆什金等人,2012年)。这可能有望帮助识别那些对特定药物反应更好的患者,从长远来看,可能有助于确保治疗过程顺利。单基因或“单基因”糖尿病占所有2型糖尿病病例的近2%,为个性化护理提供了一个范例。本综述将讨论这种疾病的诊断和治疗。

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