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

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

Alternative title Seguimento clínico de dois pacientes brasileiros com MODY-glicoquinase (MODY2) e descrição de uma nova mutação
Author Dellamanna, Thais Google Scholar
Dias-da-Silva, Magnus Régios Autor UNIFESP Google Scholar
Chacra, Antonio Roberto Autor UNIFESP Google Scholar
Kunii, Ilda S. Autor UNIFESP Google Scholar
Rolim, Ana Luiza Autor UNIFESP Google Scholar
Furuzawa, Gilberto Autor UNIFESP Google Scholar
Maciel, Rui Monteiro de Barros Autor UNIFESP Google Scholar
Reis, André Fernandes Autor UNIFESP Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Abstract 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

Mutações no gene da glicoquinase (GCK) são determinantes de uma forma de diabetes monogênico denominada de MODY2 (maturity-onset diabetes of the young, tipo 2). O padrão clínico dessa forma de distúrbio glicêmico é bastante estável, com hiperglicemia leve, geralmente não progressiva. Intervenções farmacológicas raramente são necessárias e complicações crônicas secundárias ao diabetes são infrequentes. Descrevemos o acompanhamento clínico de dois casos de MODY2 com duas mutações diferentes, uma no éxon 7, p.Glu265Lys (c.793 G>A) já descrita anteriormente, e outra inédita no éxon 2 p.Ser69Stop (c. 206C>G). A evolução clínica de ambos os casos demonstra uma semelhança no padrão metabólico dessa forma de diabetes ao longo dos anos. Arq Bras Endocrinol Metab. 2012;56(8):490-5
Language English
Date 2012-11-01
Published in Arquivos Brasileiros de Endocrinologia & Metabologia. Sociedade Brasileira de Endocrinologia e Metabologia, v. 56, n. 8, p. 490-495, 2012.
ISSN 0004-2730 (Sherpa/Romeo, impact factor)
Publisher Sociedade Brasileira de Endocrinologia e Metabologia
Extent 490-495
Origin http://dx.doi.org/10.1590/S0004-27302012000800005
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000313279100005
SciELO ID S0004-27302012000800005 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/7378

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