Perspectivas actuales en el tratamiento del hiperinsulinismo congénito

Title: Current views on the therapeutic management of congenital hyperinsulinism Congenital hyperinsulinism comprises a group of clinically, genetically and histopathologically heterogeneous entities; however, all of them coincide in that the patients have recurrent and persistent hypoketotic hypoglycemia associated with abnormally elevated insulin levels. It is often diagnosed too late and employing inadequate means due to, among other reasons, the ignorance with regard to this uncommon disease, the high rate of mortality prior to diagnosis, the wide heterogeneity of the clinical symptoms and treatment responses that make the diagnosis difficult and, in all probability, an erroneous histopathological classification of the disease. However, the recent knowledge of the molecular basis of this disease in Spain opens up new diagnostic and therapeutic possibilities. In the present review, we propose an overall strategy for the therapeutic management of this disease, summarizing the clinical and molecular concepts available to date, which could serve as basic guidelines for any pediatrician treating a patient with congenital hyperinsulinism. Thus, we attempt to improve the clinical management of this disease in Spain.