Shrenik Vora1, Suresh Chandran, Victor Samuel Rajadurai, Khalid Hussain. 1. Department of Neonatology, KK Womens and Childrens Hospital, Singapore; and Genetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme, UCL Institute of Child Health, Great Ormond Street Hospital for Children, 30 Guilford Street, London, UK. Correspondence to: Dr Shrenik Vora, Senior Staff Registrar, Department of Neonatology, KK Womens and Childrens Hospital, 100, Bukit Timah Road, Singapore 229899. vora.shrenik@kkh.com.sg.
Abstract
PURPOSE: Molecular basis of various forms of hyperinsulinemic hypoglycemia, involving defects in key genes regulating insulin secretion, are being increasingly reported. However, the management of medically unresponsive hyperinsulinism still remains a challenge as current facilities for genetic diagnosis and appropriate imaging are limited only to very few centers in the world. We aim to provide an overview of spectrum of clinical presentation, diagnosis and management of hyperinsulinism. METHODS: We searched the Cochrane library, MEDLINE and EMBASE databases, and reference lists of identified studies. CONCLUSION: Analysis of blood samples, collected at the time of hypoglycemic episodes, for intermediary metabolites and hormones is critical for diagnosis and treatment. Increased awareness among clinicians about infants at-risk of hypoglycemia, and recent advances in genetic diagnosis have made remarkable contribution to the diagnosis and management of hyperinsulinism. Newer drugs like lanreotide a long acting somatostatin analogue and sirolimus (mammalian target of rapamycin (mTOR) inhibitor) appears promising as patients with diffuse disease can be treated successfully without subtotal pancreatectomy, minimizing the long-term sequelae of diabetes and pancreatic insufficiency. Newer insights in understanding the molecular and histological basis and improvements in imaging and surgical techniques will modify the approach to patients with congenital hyperinsulinism.
PURPOSE: Molecular basis of various forms of hyperinsulinemic hypoglycemia, involving defects in key genes regulating insulin secretion, are being increasingly reported. However, the management of medically unresponsive hyperinsulinism still remains a challenge as current facilities for genetic diagnosis and appropriate imaging are limited only to very few centers in the world. We aim to provide an overview of spectrum of clinical presentation, diagnosis and management of hyperinsulinism. METHODS: We searched the Cochrane library, MEDLINE and EMBASE databases, and reference lists of identified studies. CONCLUSION: Analysis of blood samples, collected at the time of hypoglycemic episodes, for intermediary metabolites and hormones is critical for diagnosis and treatment. Increased awareness among clinicians about infants at-risk of hypoglycemia, and recent advances in genetic diagnosis have made remarkable contribution to the diagnosis and management of hyperinsulinism. Newer drugs like lanreotide a long acting somatostatin analogue and sirolimus (mammalian target of rapamycin (mTOR) inhibitor) appears promising as patients with diffuse disease can be treated successfully without subtotal pancreatectomy, minimizing the long-term sequelae of diabetes and pancreatic insufficiency. Newer insights in understanding the molecular and histological basis and improvements in imaging and surgical techniques will modify the approach to patients with congenital hyperinsulinism.