Congenital hyperinsulinism (CHI) is characterised by the dysregulation of insulin secretion leading to severe hyperinsulinaemic hypoglycaemia. Recent advances in molecular genetics have provided unique insights into understanding how insulin secretion becomes unregulated in CHI. Abnormalities in the genes ABCC8/KCNJ11 (encoding the two components SUR1/KIR6.2 of the pancreatic β-cell KATP channel respectively) is the most common genetic causes of CHI. Histologically there are two major subgroups of CHI, namely diffuse and focal. The accurate pre-operative localisation of focal disease with 18F-DOPA-PET scanning has greatly improved the management of patients with focal disease who can now be cured once the focal lesion is resected. The real challenge in CHI is the management of patients with severe diffuse disease. Until recently a near total pancreatectomy was the standard surgical management of these patients. However several new treatment modalities are being developed which in the long term will change our approach to patients with diffuse CHI. During the talk I will review the recent advances in managing patients with diffuse disease.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology