title: Monogenic diabetes: old and new approaches to diagnosis.
abstract: 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.
authors.affiliation: University of Oxford, Oxford, UK. katharine.owen@drl.ox.ac.uk
authors.forename: Katharine R
authors.initials: KR
authors.lastname: Owen
mesh_terms: D000328:Adult; D000465:Algorithms; D015415:Biomarkers / Q000097:blood; D002097:C-Reactive Protein / Q000378:metabolism*; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D005941:Glucokinase / Q000097:blood*; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000097:blood*; D051539:Hepatocyte Nuclear Factor 1-beta / Q000097:blood; D006801:Humans; D009154:Mutation; D011379:Prognosis
chemical_list: D015415:Biomarkers; C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D002097:C-Reactive Protein; D005941:Glucokinase
keywords: Aetiology of diabetes; HNF1A; glycolytic enzyme glucokinase (GCK); maturity-onset diabetes of the young (MODY); monogenic diabetes