Repositório Científico do Instituto Nacional de Saúde >
Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis >
DPSPDNT - Artigos em revistas internacionais >

Please use this identifier to cite or link to this item:

Título: Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
Autor: Ellard, S.
Bellanné-Chantelot, C.
Hattersley, A.T.
European Molecular Genetics Quality Network (EMQN) MODY group
Palavras-chave: Best practice
Maturity-onset diabetes of the young
Monogenic diabetes
Doenças Cardio e Cérebro-vasculares
Issue Date: 23-Feb-2008
Editora: Springer
Citação: Diabetologia. 2008 Apr;51(4):546-53. Epub 2008 Feb 23
Resumo: AIMS/HYPOTHESIS: Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes encoding the transcription factors hepatocyte nuclear factor-1 alpha and -4 alpha. A molecular genetic diagnosis often changes management, since patients with GCK mutations rarely require pharmacological treatment and HNF1A/4A mutation carriers are sensitive to sulfonylureas. These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results.
Descrição: Member of the EMQN MODY group: Gisela Gaspar
Arbitragem científica: yes
ISSN: 0012-186X
Versão do Editor:
Appears in Collections:DPSPDNT - Artigos em revistas internacionais

Files in This Item:

File Description SizeFormat
Best practice guidelines for the molecular.pdf179,27 kBAdobe PDFView/Open

Please give feedback about this item
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.


  © 2010 - Todos os direitos reservados | Feedback Ministério da Saúde
Promotores do RCAAP   Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência PO Sociedade do Conhecimento (POSC) Portal oficial da União Europeia