Congenital hyperinsulinism
(Redirected from Familial hyperinsulinism)
Congenital Hyperinsulinism is a rare medical condition that causes individuals to have abnormally high levels of insulin, a hormone that regulates blood sugar levels. This condition is usually present from birth and can lead to various health complications if not properly managed.
Overview[edit | edit source]
Congenital Hyperinsulinism (CHI) is a condition characterized by inappropriate insulin secretion by the beta cells of the pancreas. This results in hypoglycemia, which can lead to seizures, brain damage, and even death if not promptly treated. CHI is the most common cause of persistent hypoglycemia in newborns and infants.
Causes[edit | edit source]
CHI is usually caused by mutations in one of several genes that regulate insulin secretion from the pancreas. These mutations can be inherited from parents or can occur spontaneously. The most common genes involved are ABCC8 and KCNJ11, which encode for the subunits of the ATP-sensitive potassium channel in the beta cells of the pancreas.
Symptoms[edit | edit source]
The symptoms of CHI can vary widely, but they are all related to low blood sugar levels. These can include irritability, difficulty feeding, lethargy, seizures, and even coma in severe cases. The symptoms can be more severe in the fasting state and can be relieved by feeding.
Diagnosis[edit | edit source]
The diagnosis of CHI is based on the clinical presentation and laboratory tests. The key finding is low blood sugar levels in the presence of inappropriately high insulin levels. Genetic testing can confirm the diagnosis and help guide treatment.
Treatment[edit | edit source]
The treatment of CHI depends on the severity of the condition and the underlying genetic cause. In mild cases, frequent feedings and medications that reduce insulin secretion can be sufficient. In severe cases, surgery to remove part or all of the pancreas may be necessary.
Prognosis[edit | edit source]
With early diagnosis and appropriate treatment, the prognosis for individuals with CHI can be good. However, if left untreated, CHI can lead to permanent brain damage and other serious complications.
See Also[edit | edit source]
References[edit | edit source]
- Congenital Hyperinsulinism. (n.d.). In Wikipedia. Retrieved from https://en.wikipedia.org/wiki/Congenital_hyperinsulinism
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