基因组学的最新进展如何改善青少年起病的成年型糖尿病的精准诊断和个体化治疗。

How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.

机构信息

Univ. Lille, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 8199 - European Genomic Institute for Diabetes (EGID), University Lille, F-59000, Lille, France.

Faculty of Medicine, CNRS UMR 8199, 1 Place de Verdun, F-59045, Lille, France.

出版信息

Curr Diab Rep. 2019 Aug 5;19(9):79. doi: 10.1007/s11892-019-1202-x.

Abstract

PURPOSE OF REVIEW

Non-autoimmune monogenic diabetes (MD) in young people shows a broad spectrum of clinical presentations, which is largely explained by multiple genetic etiologies. This review discusses how the application of state-of-the-art genomics research to precision diagnosis of MD, particularly the various subtypes of maturity-onset diabetes of the young (MODY), has increasingly informed diabetes precision medicine and patient care throughout life.

RECENT FINDINGS

Due to extended genetic and clinical heterogeneity of MODY, diagnosis approaches based on next-generation sequencing have been worthwhile to better ascribe a specific subtype to each patient with young-onset diabetes. This guides the best appropriate treatment and clinical follow-up. Early etiological diagnosis of MD and individualized treatment are essential for achieving metabolic targets and avoiding long-term diabetes complications, as well as for drastically decreasing the financial and societal burden of diabetes-related healthcare. Genomic medicine-based practices help to optimize long-term clinical follow-up and patient care management.

摘要

目的综述

年轻人中的非自身免疫性单基因糖尿病(MD)表现出广泛的临床特征,这主要可以用多种遗传病因来解释。这篇综述讨论了将最先进的基因组学研究应用于 MD 的精准诊断,特别是各种青年发病型糖尿病(MODY)亚型,如何越来越多地为糖尿病精准医学和终生患者护理提供信息。

最近的发现

由于 MODY 的遗传和临床异质性扩展,基于下一代测序的诊断方法对于更好地将特定亚型归因于每个年轻起病的糖尿病患者是值得的。这指导了最佳的适当治疗和临床随访。MD 的早期病因诊断和个体化治疗对于实现代谢目标和避免长期糖尿病并发症,以及极大地降低与糖尿病相关的医疗保健的财务和社会负担至关重要。基于基因组医学的实践有助于优化长期临床随访和患者护理管理。

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