Neonatal diabetes caused by ins gene mutation (clinical case)

Neonatal diabetes mellitus (NDM) is a rare genetic disorder affecting 1 in 90,000 to 160,000 live births. NDM is defined by the presence of severe hyperglycemia associated with insufficient or absent circulating insulin, which occurs mainly before the age of 6 months and rarely between the ages of 6 months and 1 year. Based on the duration of insulin depen­dence, two main types of disease have been described: transient neonatal diabetes, which accounts for 50—60 % of cases and usually resolves by 18 months of age, and permanent neonatal diabetes, which is less common and by definition does not go into remission. Infants with NDM may have vague clinical manifestations that may vary from asymptomatic hyperglycemia to polydipsia, developmental delay, vomiting, irritability, or acute conditions with the development of severe dehydration, convulsions, and ketoacidosis. The prognosis of the disease clearly depends on the severity of hyperglycemia and the speed of recognition of the disease and the appointment of treatment. It is the early clarification of the molecular etiology using genetic testing that is of primary importance, therefore it is indicated in all cases of diabetes diagnosed before the age of 12 months. INS gene mutation is the second most common cause of diabetes in the first year of life. The article presents a clinical case of clinical­paraclinical and molecular­genetic features of the course of neonatal diabetes caused by a mutation of the INS gene. On the basis of the given case, the need for a comprehensive approach to the examination of children with suspected neonatal diabetes mellitus is shown in order to verify nosology options, form personalized treatment tactics, determine the prognosis and ensure a high level of medical and genetic counseling in the future.