Maturity onset diabetes of the young: identification and diagnosis.

2.50
Hdl Handle:
http://hdl.handle.net/11287/610434
Title:
Maturity onset diabetes of the young: identification and diagnosis.
Authors:
McDonald, Timothy J. ( 0000-0003-3559-6660 ) ; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
Maturity-onset diabetes of the young (MODY) is a monogenic disorder that results in a familial, young-onset non-insulin dependent form of diabetes, typically presenting in lean young adults before 25 years. Approximately 1% of diabetes has a monogenic cause but this is frequently misdiagnosed as Type 1 or Type 2 diabetes. A correct genetic diagnosis is important as it often leads to improved treatment for those affected with diabetes and enables predictive genetic testing for their asymptomatic relatives. An early diagnosis together with appropriate treatment is essential for reducing the risk of diabetic complications in later life. Mutations in the GCK and HNF1A/4 A genes account for up to 80% of all MODY cases. Mutations in the GCK gene cause a mild, asymptomatic and non-progressive fasting hyperglycaemia from birth usually requiring no treatment. In contrast, mutations in the genes encoding the transcription factors HNF1A and HNF4A cause a progressive insulin secretory defect and hyperglycaemia that can lead to vascular complications. The diabetes in these patients is usually well controlled with sulphonylurea tablets although insulin treatment may be required in later life. In this review, we outline the key clinical and laboratory characteristics of the common and rarer causes of MODY with the aim of raising awareness of this condition amongst health-care scientists.
Citation:
Maturity onset diabetes of the young: identification and diagnosis. 2013, 50 (Pt 5):403-15 Ann. Clin. Biochem.
Publisher:
Sage
Journal:
Annals of clinical biochemistry
Issue Date:
22-Jul-2013
URI:
http://hdl.handle.net/11287/610434
DOI:
10.1177/0004563213483458
PubMed ID:
23878349
Additional Links:
http://acb.sagepub.com/content/50/5/403.long
Note:
This article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text from the publisher's site.
Type:
Journal Article
Language:
en
ISSN:
1758-1001
Appears in Collections:
pre-2014 RD&E publications; Diabetes/Endocrine Services

Full metadata record

DC FieldValue Language
dc.contributor.authorMcDonald, Timothy J.en
dc.contributor.authorEllard, Sianen
dc.date.accessioned2016-05-20T10:59:48Zen
dc.date.available2016-05-20T10:59:48Zen
dc.date.issued2013-07-22en
dc.identifier.citationMaturity onset diabetes of the young: identification and diagnosis. 2013, 50 (Pt 5):403-15 Ann. Clin. Biochem.en
dc.identifier.issn1758-1001en
dc.identifier.pmid23878349en
dc.identifier.doi10.1177/0004563213483458en
dc.identifier.urihttp://hdl.handle.net/11287/610434en
dc.description.abstractMaturity-onset diabetes of the young (MODY) is a monogenic disorder that results in a familial, young-onset non-insulin dependent form of diabetes, typically presenting in lean young adults before 25 years. Approximately 1% of diabetes has a monogenic cause but this is frequently misdiagnosed as Type 1 or Type 2 diabetes. A correct genetic diagnosis is important as it often leads to improved treatment for those affected with diabetes and enables predictive genetic testing for their asymptomatic relatives. An early diagnosis together with appropriate treatment is essential for reducing the risk of diabetic complications in later life. Mutations in the GCK and HNF1A/4 A genes account for up to 80% of all MODY cases. Mutations in the GCK gene cause a mild, asymptomatic and non-progressive fasting hyperglycaemia from birth usually requiring no treatment. In contrast, mutations in the genes encoding the transcription factors HNF1A and HNF4A cause a progressive insulin secretory defect and hyperglycaemia that can lead to vascular complications. The diabetes in these patients is usually well controlled with sulphonylurea tablets although insulin treatment may be required in later life. In this review, we outline the key clinical and laboratory characteristics of the common and rarer causes of MODY with the aim of raising awareness of this condition amongst health-care scientists.en
dc.language.isoenen
dc.publisherSageen
dc.relation.urlhttp://acb.sagepub.com/content/50/5/403.longen
dc.rightsArchived with thanks to Annals of clinical biochemistryen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleMaturity onset diabetes of the young: identification and diagnosis.en
dc.typeJournal Articleen
dc.identifier.journalAnnals of clinical biochemistryen
dc.description.noteThis article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text from the publisher's site.en
dc.description.fundingNIHR-HCS-P12-03-03/Department of Health/United Kingdomen
dc.type.versionPublisheden
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