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Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
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Orientador(es)
Resumo(s)
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
Palavras-chave
Best practice GCK HNF1A HNF4A Maturity-onset diabetes of the young MODY Monogenic diabetes Doenças Cardio e Cérebro-vasculares
Contexto Educativo
Citação
Diabetologia. 2008 Apr;51(4):546-53. Epub 2008 Feb 23