/congenital isolated hyperinsulinism

congenital isolated hyperinsulinism

Rare Disease

MONDO:0019010

Also Known As

Congenital HyperinsulinismPHHIchipersistent hyperinsulinemic hypoglycemia of infancycongenital hyperinsulinismhyperinsulinemic hypoglycemia familialhyperinsulinism congenitalhyperinsulinism familial with pancreatic nesidioblastosishypoglycemia hyperinsulinemic of infancy

Definition

Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.