Congenital Hyperinsulinism: the Possibilities of Modern Diagnosis and Treatment

Abstract

Congenital hyperinsulinism (CHI) — one of the main causes underlying the development of persistent hypoglycemic conditions in childhood. The article presents the experience of diagnosis and treatment in patients with CHI. We have examined 7 children diagnosed with СHI aged 1 month to 1.5 years. For diagnosing CHI, we have used routine clinical and laboratory investigations, as well as molecular genetic and instrumental diagnostics (18F-DOPA positron emission tomography). Molecular genetic testing confirmed the diagnosis of CHI in 6 children. All 7 children with CHI had various resistance to conservative treatment, had a different degree of psychomotor development and seizures. Of them, 6 children underwent surgery with achievement of normoglycemia. Genetic testing and 18F-DOPA positron emission tomography should be carried out in all children with hypoglycemia and increased or normal levels of C-peptide and insulin to clarify the type of CHI. Further development of genetic diagnostics is necessary to find new CHI genes. Surgical treatment may be a treatment of choice in children with CHI, particularly in its focal form.

Keywords

• congenital hyperinsulinism
• hypoglycemia
• children
• diagnosis and treatment