Congenital Hyperinsulinism (CHI) is a rare genetic disorder characterized by excessive insulin production in the pancreas. It affects infants and children, causing low blood sugar levels (hypoglycemia) that can lead to serious complications if left untreated.
The condition is caused by mutations in specific genes that regulate insulin secretion. These mutations result in abnormal insulin production, leading to an overabundance of insulin in the bloodstream. The excess insulin causes the body to rapidly metabolize glucose, leading to hypoglycemia.
CHI can present with various symptoms including seizures, lethargy, irritability, and poor feeding. If left undiagnosed or untreated, it can result in developmental delays, brain damage, and even death.
Early diagnosis and prompt treatment are crucial to manage CHI. Treatment options include medications to regulate insulin secretion, dietary modifications, and in severe cases, surgical removal of part or all of the pancreas. Close monitoring of blood sugar levels is essential to prevent hypoglycemic episodes and ensure optimal growth and development.
Research and advancements in understanding CHI continue to improve diagnosis and treatment options, offering hope for affected individuals and their families.