Congenital hyperinsulinism – considered to be the clinical opposite of diabetes – occurs when too much insulin is released. This results in low blood sugar levels, which can lead to brain damage or permanent disability. In some infants, the excess insulin release is a consequence of genetic mutations affecting their ability to control insulin levels; however, for over two-thirds of patients the genetic causes are still unknown. Current treatments range from drugs to limit the release of insulin, to the removal of the pancreas in more serious cases.
Karen Cosgrove from the Faculty of Life Sciences (University of Manchester, UK) who led the research published in The Journal of Pediatrics explained the significance of being able to detect the disease, “We have discovered a new clinical test which can identify congenital hyperinsulinism in some patients with no known genetic cause of the disease. This is the first step to understanding what causes the disease in these particular patients. In future the test may influence how these children are treated medically, perhaps even avoiding the need to have their pancreas removed.”
Incretins, a pair of hormones produced in specialized cells in the gut, regulate sugar levels by controlling the release of insulin from the pancreas under normal conditions. In infants with the condition, increased incretin release leads to higher levels of insulin, causing dangerously low blood sugar levels. The new test works by measuring the levels of these incretins.
The published research includes information on the analysis of the genes and hormones of 13 children with congenital hyperinsulinism. “Although we are the first researchers to report high incretin hormone levels in patients with congenital hyperinsulinism, further studies are needed to see if our test works on a larger group of patients,” acknowledged Cosgrove.
Indi Banerjee, Consultant in Paediatric Endocrinology at Royal Manchester Children’s Hospital (UK), explained the importance of the work going forward, “Our new results are timely since clinical trials of a new incretin-blocking treatment for congenital hyperinsulinism have recently started. We anticipate that our clinical test will help to identify the patients who are likely to benefit from this new treatment the most.”
Sources: Shi Y, Avatapalle HB, Skae SM. Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. J. Pediatr. DOI: 10.1016/j.jpeds.2014.09.019; New test could identify infants with rare insulin disease.