Diabetes mellitus neonatal permanente, variante del gen KCNJ11: Reporte de caso

Abstract

Neonatal diabetes mellitus is a monogenic hereditary disease in 80-90% of cases. It presents in two forms: a transient one, generally in the first week of life, characterized by the association of hyperglycemia and intrauterine growth restriction; and a permanent one that presents with severe hyperglycemia and ketoacidosis that manifests before 6 months of life. Clinical forms depend on genetic variation, which is identified by whole exome sequencing. The right treatment is based on the correction of hyperglycemia with insulin, as well as management with high doses of sulfonylureas. This case shows an infant, 1 month and 26 days old, who presents with diabetic ketoacidosis intially in delicate general condition; who was treated with insulin therapy with an adequate response to the metabolic and neurological alterations; KCNJ11 gene mutation was confirmed, suggesting permanent neonatal diabetes mellitus. Currently the patient is being treated with glibenclamide, there is no deterioration in neurodevelopment and his growth is satisfactory. We conclude that all patients under 6 months of age with a diagnosis of diabetes mellitus, regardless of the clinical manifestations, should be studied with genetic or molecular tests to identify associated mutations that will determine the severity of the disease and therefore allow to make an early diagnosis, timely treatment and avoiding long-term complications.