Federal clinical practice guidelines on the diagnostics, treatment, and management of the children and adolescents presenting with congenital hyperinsulinism

Abstract

Congenital hyperinsulinism (CHI) is characterized by disregulated insulin hypersecretion with pancreatic b-cells, which lead to hypoglycemia. Untreated hypoglycemia in infancy can lead to seizures and severe brain injury. Early diagnosis and appropriate management are vital to prevent brain damage. CHI is a heterogeneous disorder in terms of its etiological factors, clinical presentation and morphological forms. Mutations in nine genes have been identified to date in patients with CHI. In addition, few syndromic forms have been described which might present with hyperinsulinemic hypoglycemia. This review gives an overview of the classification and clinical presentation of CHI and provides guidelines for diagnostic approaches and management of patients with different forms of HI.