Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques

Abstract

Congenital hyperinsulinism comprises a group of diseases characterized by a persistent hyperinsulinemic hypoglycemia, due to mutation in the genes involved in the regulation of insulin secretion. The severity and the duration of hypoglycemic episodes, primarily in the neonatal period, can lead to neurological impairment. Detecting blood sugar is relatively simple but, unfortunately, symptoms associated with hypoglycemia may be non-specific. Research in this field has led to novel insight in diagnosis, monitoring and treatment, leading to a better neurological outcome. Given the increased availability of continuous glucose monitoring systems that allow glucose level recognition in a minimally invasive way, monitoring the glycemic trend becomes easier and there are more possibilities of a better follow-up of patients. We aim to provide an overview of new available technologies and new discoveries and their potential impact on clinical practice, convinced that only with a better awareness of the disease and available tools we can have a better impact on CHI diagnosis, prevention and clinical sequelae.

Keywords: CGM; glucose; hyperinsulinism; hypoglycemia; inborn error of metabolism.

Figure 1

Mutations in genes involved in insulin release and production are responsible for hyperinsulinism. SUR1, sulphonylurea receptor 1; Kir6.2, inwardly rectifying potassium channel 6.2; K, potassium; MCT1, monocarboxylate transporter 1; G6P, glucose 6 phosphate; PGM1, phosphoglucomutase 1; UCP2, mitochondrial uncoupling protein 2; SCHAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase; HNF1A and 4A, hepatocyte nuclear factor 1A and 4A; Ca²⁺, calcium.