Understanding Congenital Hyperinsulinism: Causes, Symptoms, Diagnosis, Treatment, and Prevention
In congenital hyperinsulinism (CHI), the pancreas secretes excessive amounts of insulin, resulting in low blood glucose levels (hypoglycemia), a rare genetic disorder. Pancreatic genes that control insulin secretion and glucose metabolism are affected by CHI mutations. As a result of these genetic mutations, pancreatic beta cells release insulin inappropriately even when blood glucose levels are low, disrupting their normal function. Depending on the specific genetic mutation involved, CHI may be inherited as an autosomal recessive or autosomal dominant disorder.
Symptoms of congenital hyperinsulinism may include:
Symptoms of hypoglycemia include shakiness, sweating, irritability, hunger, and lethargy.
Seizures caused by severe hypoglycemia, especially in infants and young children.
Feeding problems and failure to thrive as a result of insufficient energy intake and utilization.
The severity of hypoglycemia and its effects on the nervous system can cause hypertonia (increased muscle tone) or hypotonia (decreased muscle tone).
Hypoglycemia may cause developmental delays or intellectual disabilities if it is not treated and managed promptly.
A combination of clinical evaluation, biochemical tests, and imaging studies is needed to diagnose congenital hyperinsulinism:
Congenital hyperinsulinism is characterized by hypoglycemia, which is measured using a glucometer or laboratory tests.
Blood insulin levels and glucose levels are measured in order to evaluate insulin-to-glucose ratios and assess insulin secretion.
An imaging test such as ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI) may be performed to evaluate the pancreas' structure and size.
A genetic test can be conducted to identify specific mutations in genes associated with congenital hyperinsulinism, thus confirming the diagnosis and providing information about inheritance patterns and prognoses.
Managing hypoglycemia and preventing long-term complications are the main goals of treatment for congenital hyperinsulinism:
During hypoglycemic episodes, intravenous or oral glucose administration is used to raise blood glucose levels and counteract excessive insulin secretion.
Diabetes medications include diazoxide, octreotide, and glucagon, which inhibit insulin secretion from the pancreas and maintain normal blood glucose levels.
In severe cases of congenital hyperinsulinism, surgical removal of part or all of the pancreas (pancreatectomy) may be necessary to control insulin secretion and prevent recurrent hypoglycemia.
Early detection and appropriate treatment are key to preventing congenital hyperinsulinism:
Families with a history of congenital hyperinsulinism or carriers of the mutated gene may benefit from prenatal screening and genetic testing to identify at-risk pregnancies and provide appropriate management.
Early detection and treatment of hypoglycemia in infants and children with congenital hyperinsulinism are essential to preventing long-term complications.
In conclusion, congenital hyperinsulinism is a rare genetic disorder characterized by excessive insulin secretion from the pancreas, leading to hypoglycemia. Managing hypoglycemia and preventing long-term complications is the goal of treatment, which involves clinical evaluation, biochemical testing, imaging studies, and genetic testing. In order to prevent congenital hyperinsulinism, early detection, prenatal screening, and prompt diagnosis and treatment are key. It is important to consult with a healthcare provider if you suspect your child may have congenital hyperinsulinism or hypoglycemia.
