Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation

• Autor(a) principal: DellaManna,Thais
• Data de Publicação: 2012
• Outros Autores: Silva,Magnus R. da, Chacra,Antonio Roberto, Kunii,Ilda S., Rolim,Ana Luiza, Furuzawa,Gilberto, Maciel,Rui Monteiro de Barros, Reis,André Fernandes
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000800005

Mutations in the glucokinase gene (GCK) account for many cases of monogenic diabetes featuring maturity-onset diabetes of the young type 2 (MODY2). The clinical pattern of this form of hyperglycemia is rather stable, with a slight elevation in blood glucose, which is usually not progressive. Patients rarely require pharmacological interventions and microvascular complications related to diabetes are unusual. We describe the clinical follow-up of two cases of MODY2 with two different mutations in GCK gene, one in exon 7, p.Glu265Lys (c.793 G> A), which has been previously described, and a novel one, in exon 2, p.Ser69Stop (c. 206C> G). The clinical course of both cases shows similarity in metabolic control of this form of diabetes over the years. Arq Bras Endocrinol Metab. 2012;56(8):490-5