Document Detail

Monogenic diabetes: old and new approaches to diagnosis.
MedLine Citation:
PMID:  23760703     Owner:  NLM     Status:  MEDLINE    
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.
Katharine R Owen
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical medicine (London, England)     Volume:  13     ISSN:  1470-2118     ISO Abbreviation:  Clin Med     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-06-13     Completed Date:  2013-08-23     Revised Date:  2014-03-14    
Medline Journal Info:
Nlm Unique ID:  101092853     Medline TA:  Clin Med     Country:  England    
Other Details:
Languages:  eng     Pagination:  278-81     Citation Subset:  IM    
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MeSH Terms
Biological Markers / blood
C-Reactive Protein / metabolism*
Diabetes Mellitus, Type 1 / diagnosis*,  genetics*
Diagnosis, Differential
Glucokinase / blood*
Hepatocyte Nuclear Factor 1-alpha / blood*
Hepatocyte Nuclear Factor 1-beta / blood
Grant Support
DHCS/07/07/008//Department of Health
Reg. No./Substance:
0/Biological Markers; 0/HNF1A protein, human; 0/Hepatocyte Nuclear Factor 1-alpha; 138674-15-4/Hepatocyte Nuclear Factor 1-beta; 9007-41-4/C-Reactive Protein; EC

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