Diazoxide-resistant focal hyperinsulinism

MONDO:0019265

Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.

Also known as: hyperinsulinemic hypoglycemia, diazoxide-resistant focal form

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Sub-types

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (0) Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Digestive system disorder (160) Endocrine system disorder (72) Glucose metabolism disease (60) Inborn errors of metabolism (45) Pancreas disorder (38) Hyperinsulinism (31) Human disease (14)

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