Mini Review

Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of Infancy
Khalid Hussain

London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, and Institute of Child Health, University College London, London, UK

Address of Corresponding Author

Horm Res 2008;69:2-13 (DOI: 10.1159/000111789)

  Key Words

• Childhood hyperinsulinaemic hypoglycaemia
• Congenital hyperinsulinism
• Genetic causes, hyperinsulinaemic hypoglycaemia
• K_ATP channels, glucose metabolism

  Abstract

Hyperinsulinaemic hypoglycaemia is a cause of persistent hypoglycaemia in the neonatal and infancy periods. Prompt recognition and management of patients with hyperinsulinaemic hypoglycaemia are essential, if brain damage and long-term neurological sequelae are to be avoided. Hyperinsulinaemic hypoglycaemia can be transient, prolonged, or persistent (congenital). Advances in the fields of molecular biology, genetics, and pancreatic -cell physiology are beginning to provide novel insights into the mechanisms causing congenital forms of hyperinsulinism. So far mutations in six different genes have been described that lead to unregulated insulin secretion. The histological differentiation of focal and diffuse congenital hyperinsulinism has radically changed the surgical approach to this disease. Until recently, highly invasive investigations were performed to localize the focal lesion, but recent experience with ¹⁸F-L-dopa positron emission tomography scanning suggests that this technique is highly sensitive for differentiating diffuse from focal disease as well as for accurately locating the focal lesion. Despite recent advances, the genetic basis of congenital hyperinsulinism is still unknown in about 50% of the patients, and the management of medically unresponsive diffuse disease remains a real challenge.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Dr. K. Hussain
Developmental Endocrinology Research Group, Molecular Genetics Unit
Institute of Child Health, University College London, 30 Guilford Street
London WC1N 1EH (UK)
Tel. +44 (0) 20 7 905 2128, Fax +44 (0) 20 7 404 6191, E-Mail K.Hussain@ich.ucl.ac.uk

  Article Information

Received: September 7, 2006
Accepted after revision: July 27, 2007
Published online: December 4, 2007
Number of Print Pages : 12
Number of Figures : 5, Number of Tables : 2, Number of References : 76