University of Oxford, Oxford, UK.
Clin Med (Lond). 2013 Jun;13(3):278-81. doi: 10.7861/clinmedicine.13-3-278.
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.
高达 5%的年轻成人糖尿病患者存在单基因病因，最常见的是青少年发病的成年型糖尿病（MODY）。明确的分子诊断很重要，因为这会影响治疗、预后和家族筛查。然而，由于缺乏对诊断益处的认识以及区分 MODY 患者与常见糖尿病形式的挑战，目前的诊断率仍然很低。本文旨在向全科医生介绍单基因糖尿病的特征以及可用于诊断患者的临床特征。最近，全基因组关联研究导致了 C 反应蛋白和聚糖谱的鉴定，这些标志物是由于 HNF1A 突变导致的最常见 MODY 亚型的特异性生物标志物，并且讨论了这些发现的潜在转化。
