Congenital isolated hyperinsulinism

Overview

What is congenital isolated hyperinsulinism?

Congenital isolated hyperinsulinism (CHI) is a disorder that causes individuals to have abnormally high insulin levels. It is the most common cause of severe and persistent low blood sugar (hypoglycemia) in the neonatal and early infancy period. Recurrent episodes of hypoglycemia can cause seizures and other neurologic symptoms in the infant and neonatal period including breathing difficulties, intellectual disability and vision loss.

Insulin is a hormone produced by the beta cells of the pancreas that helps lower blood sugar levels. This hormone is normally secreted by the pancreas after a meal. People with CHI secrete too much insulin at inappropriate times. Because of the high levels of insulin, people with CHI have frequent episodes of low blood sugar (hypoglycemia) even after a meal.

There are many forms of CHI. Some are more severe than others. Some people experience episodes of hypoglycemia in the first month of life. Others develop this condition in early childhood or later. Regardless of the type of CHI, early diagnosis and treatment is important to prevent the neurologic complications associated with hypoglycemia.

Glaser B. Familial Hyperinsulinism. Gene Reviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK1375/.

Congenital Hyperinsulinism. National Organization for Rare Diseases (NORD). 2016; https://rarediseases.org/rare-diseases/congenital-hyperinsulinism/

Sunehag A & Haymond MW. Pathogenesis, clinical features, and diagnosis of persistent hyperinsulinemic hypoglycemia of infancy. UpToDate. 2018; http://www.uptodate.com/contents/pathogenesis-clinical-features-and-diagnosis-of-persistent-hyperinsulinemic-hypoglycemia-of-infancy."

Congenital hyperinsulinism. Genetics Home Reference. 2014; http://ghr.nlm.nih.gov/condition/familial-hyperinsulinism.

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