Hiperglucemia en ayunas y polimorfismo en el promotor de la glucoquinasa (rs1799884)

• Autores: Maria Pilar Bahíllo Curieses, Florinda Hermoso López, Rebeca Garrote Molpeceres, O. Zurita Muñoz, A Campos Barros
• Localización: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN-e 1696-4608, ISSN 1695-4033, Vol. 75, Nº. 4, 2011, págs. 273-276
• Idioma: español
• Títulos paralelos:
  • Fasting hyperglycaemia and polymorphism in glucokinase promoter (rs1799884)
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• Resumen

  • Abstract Glucokinase is one of the most important regulators of fasting glucose levels. There are several mutations in the glucokinase gene (GCK) which are linked with monogenic diabetes. Recently, a polymorphism in its promoter has been described, which is associated with impaired fasting glucose levels. We present a 7 years and 7 months old boy with overweight and a familial background of diabetes in two previous generations. In the oral glucose tolerance test, he had impaired fasting glucose levels and after two hours, with a high insulin response. Laboratory abnormalities improved after weight loss, but he maintains a slight fasting hyperglycaemia. The molecular study of the most common monogenic diabetes forms, MODY subtypes 1, 2, and 3, was negative. The allelic variant G/A was however detected at the GCK promoter polymorphism rs1799884