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

2012; Editora da Universidade de São Paulo; Volume: 56; Issue: 8 Linguagem: Inglês

10.1590/s0004-27302012000800005

ISSN

1677-9487

Autores

Thais DellaManna, Magnus R. Dias‐da‐Silva, Antônio Roberto Chacra, Ilda S. Kunii, Ana Luiza Rolim, Gilberto K. Furuzawa, Rui M. B. Maciel, André F. Reis,

Tópico(s)

Diabetes and associated disorders

Resumo

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.

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