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. © ABEM todos os direitos reservados.
CITATION STYLE
DellaManna, T., Da Silva, M. R., Chacra, A. R., Kunii, I. S., Rolim, A. L., Furuzawa, G., … Reis, A. F. (2012). Seguimento clínico de dois pacientes brasileiros com MODYglicoquinase (MODY2) e descrição de uma nova mutação. Arquivos Brasileiros de Endocrinologia e Metabologia, 56(8), 490–495. https://doi.org/10.1590/S0004-27302012000800005
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