Hyperinsulinism in children, congenital

Congenital Hyperinsulinism
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Low blood sugar, irritability, lethargy, seizures
Complications	Brain damage, developmental delay
Onset	Neonatal period
Duration	Chronic
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Blood tests, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Medications, surgery, dietary management
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Congenital Hyperinsulinism (CHI) is a rare genetic disorder characterized by excessive insulin secretion from the pancreas, leading to persistent hypoglycemia (low blood sugar levels) in infants and children. This condition can result in serious complications if not diagnosed and managed promptly.

Pathophysiology

In congenital hyperinsulinism, the beta cells of the pancreas secrete insulin inappropriately, even when blood glucose levels are low. This excessive insulin production causes hypoglycemia, which can lead to neurological damage if not treated. The condition is often due to genetic mutations affecting the regulation of insulin secretion.

Genetic Causes

Congenital hyperinsulinism is primarily caused by mutations in genes involved in the regulation of insulin secretion. The most common genetic mutations occur in the ABCC8 and KCNJ11 genes, which encode components of the ATP-sensitive potassium channel in pancreatic beta cells. Other genes that may be involved include GLUD1, GCK, and HADH.

Clinical Presentation

Symptoms of congenital hyperinsulinism typically present in the neonatal period or early infancy. Common symptoms include:

• Hypoglycemia
• Irritability
• Lethargy
• Poor feeding
• Seizures

If left untreated, prolonged hypoglycemia can lead to brain damage and developmental delays.

Diagnosis

Diagnosis of congenital hyperinsulinism involves:

• Blood tests to measure glucose and insulin levels
• Critical sample analysis during hypoglycemia
• Genetic testing to identify mutations
• Imaging studies such as PET scan to localize focal lesions in the pancreas

Treatment

The management of congenital hyperinsulinism aims to maintain normal blood glucose levels and prevent complications. Treatment options include:

• Medications: Diazoxide and octreotide are commonly used to reduce insulin secretion.
• Surgery: In cases of focal hyperinsulinism, surgical removal of the affected part of the pancreas may be necessary.
• Dietary management: Frequent feedings and a high-carbohydrate diet can help maintain blood glucose levels.

Prognosis

The prognosis for children with congenital hyperinsulinism varies depending on the underlying genetic cause and the effectiveness of treatment. Early diagnosis and management are crucial to prevent neurological damage.

Also see

• Hypoglycemia
• Pancreas
• Endocrinology
• Genetic disorders