期刊
CLINICAL MEDICINE
卷 13, 期 3, 页码 278-281出版社
ROY COLL PHYS LONDON EDITORIAL OFFICE
DOI: 10.7861/clinmedicine.13-3-278
关键词
Aetiology of diabetes; glycolytic enzyme glucokinase (GCK); HNF1A; maturity-onset diabetes of the young (MODY); monogenic diabetes
资金
- Department of Health [DHCS/07/07/008] Funding Source: Medline
- National Institutes of Health Research (NIHR) [DHCS/07/07/008] Funding Source: National Institutes of Health Research (NIHR)
- National Institute for Health Research [DHCS/07/07/008] Funding Source: researchfish
Up to 5% of young adults diagnosed with diabetes have a monogenic aetiology, the most common of which is maturity-onset diabetes of the young (MODY). A definitive molecular diagnosis is important, as this affects treatment, prognosis and family screening. Currently, however, rates of diagnosis are low due to a combination of lack of awareness of the benefits of making the diagnosis and the challenges of differentiating patients with MODY from those with common forms of diabetes. This article aims to introduce general physicians to the characteristics of monogenic diabetes and the clinical features that can be used to diagnose patients. Recently, genomewide association studies have resulted in the identification of C-reactive protein and glycan profile as specific biomarkers for the most common MODY subtype due to HNF1A mutations, and the potential translation of these findings are discussed.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据