ABSTRACT
La glucoquinasa es uno de los principales reguladores de la glucemia plasmática en ayunas. Numerosas mutaciones en el gen de la glucoquinasa (GCK) se han identificado como base molecular de la diabetes monogénica. Recientemente se han descrito polimorfismos en su promotor que se asocian a incrementos en la glucemia plasmática en ayunas. Se presenta a un niño de 7 años y 7 meses con sobrepeso y antecedentes de diabetes en dos generaciones previas. En la sobrecarga oral de glucosa presentó alteración de la glucemia en ayunas y a las 2h, con respuesta de insulina elevada. Las alteraciones analíticas mejoraron tras pérdida ponderal manteniendo una discreta hiperglucemia en ayunas. El estudio de las diabetes monogénicas más frecuentes, MODY subtipos 1, 2 y 3, fue negativo, encontrándose la variante alélica (G/A) en el polimorfismo rs1799884, localizado en el promotor de GCK (AU)
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 (AU)
Subject(s)
Humans , Male , Child , Hyperglycemia/diagnosis , Hyperglycemia/therapy , Glucokinase/administration & dosage , Glucokinase/therapeutic use , Overweight/diagnosis , Overweight/enzymology , Hyperglycemia/enzymology , Glucokinase/chemical synthesis , Glucokinase/metabolism , Monitoring, Physiologic/instrumentation , Monitoring, Physiologic/methods , Blood Glucose Self-Monitoring/methods , Blood Glucose Self-Monitoring/trends , Blood Glucose Self-MonitoringABSTRACT
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.
