Hyperinsulinaemic hypoglycaemia in infancy and childhood--resolving the enigma.

Overview

Children with severe hypoglycaemia due to persistent hyperinsulinism in infancy (HI) generate some of the most formidable problems of management in contemporary paediatric endocrinology. Until recently its pathophysiology was an enigma, although it was thought to be due to an anatomical abnormality in the islets of Langerhans (so called 'nesidioblastosis'). During the last 6 years there has been an explosion of knowledge providing fundamental insights into the pathological mechanisms underpinning the abnormal insulin secretion. This knowledge has been facilitated by ENRHI, a programme of research funded by the European Union, which brings together clinicians and basic scientists from 14 different countries. This collaboration encompasses clinical paediatric endocrinology, intracellular biochemistry, membrane physiology and molecular biology. This collaboration has resulted in numerous publications generating new insights into the pathophysiology of HI and represents a paradigm for collaboration in paediatric endocrinology. This review article is based on a plenary lecture delivered at the European Society for Paediatric Endocrinology meeting in Montreal on behalf of the European Network for Research into Hyperinsulinism of Infancy (ENRHI).