Congenital organic hyperinsulinism associated with a variant in the ABCC8 gene. Description of a family case

Hypoglycemia is the most common metabolic disorder occurring in early childhood, which can be the first, and sometimes the only symptom of a whole range of diseases. Etiology determines the characteristic clinical features of the course of hypoglycemic syndrome. Diagnosis is complicated by the fact that the clinical manifestations of hypoglycemia are variable and little specific. The main cause of persistent hypoglycemia in children of the first years of life is congenital hyperinsulinism.

Congenital hyperinsulinism is a hereditary disease characterized by inadequate hypersecretion of insulin by beta cells of the pancreas. Manifesting as a rule in the neonatal period, congenital hyperinsulinism is a great threat, both in terms of survival of patients with late diagnosis, and in terms of the risks of severe neurological complications with inadequate therapy of emerging hypoglycemia.

The article describes a family case of congenital organic hyperinsulinism associated with a rare heterozygous mutation in the ABCC8 gene, the early diagnosis of which allowed avoiding severe complications of the disease and timely prescribing adequate treatment. The clinical variability of the course of the disease in related patients was shown, which required a personalized approach to diagnosis and treatment.

Thus, early detection of hypoglycemia, clarification of its etiology, including with the help of molecular genetic analysis, timely drug therapy and monitoring of the state of carbohydrate metabolism, are important aspects in the treatment and supervision of patients with congenital hyperinsulinism and the prevention of severe neurological complications in them.