ESPE Abstracts

Congenital hyperinsulinism (CHI) is a rare inherited disease characterized by dysregulated insulin secretion from pancreatic β-cells leading to profound and recurrent hypoglycemia. The incidence of the disease in most countries worldwide is about 1 in 50000 newborns, and more frequent in countries with high consanguinity. Recurrent hypoglycemia can lead to neurological insult and permanent brain injury.

In Kosova in the last 15 years there were 4 cases diagnosed with CH, 3 cases in neonatal period and one case in infancy. The most frequently seen mutations were ABCC8 gene mutations. One of the patients required near-total surgical removal of the pancreas because of unresponsiveness in medical therapy.

In conclusion, clinical course and treatment response of patients with CHI are very heterogeneous. Long term and careful monitoring is needed. Awareness campaigns are needed to reduce brain damage in those patients.