Diazoxide-unresponsive forms of congenital hyperinsulinism

Arpana Rayannavar, Henrik Thybo Christesen, Diva D. De León-Crutchlow

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Congenital hyperinsulinism (HI) is defined as being “diazoxide-unresponsive” if the hypoglycemia persists despite maximum doses of diazoxide for at least five days. Inactivating mutations in the genes encoding the two subunits of the beta-cell ATP-sensitive potassium (KATP) channel are the most frequent cause of diazoxide-unresponsive hyperinsulinism. Children with KATPHI typically present at birth with severe hypoglycemia. Genetic testing can be used to identify children with focal KATPHI and 18F-DOPA-PET imaging aids with focal lesion localization for curative surgery. A less common form of diazoxide-unresponsive HI is caused by activating mutations in glucokinase (GCK). Clinical phenotypes in children with GCK HI vary, but may be diazoxide-unresponsive and medically uncontrollable, requiring pancreatectomy. Approximately ten percent of diazoxide-unresponsive HI cases are of unknown genetic etiology. The overall goal in the management of infants with diazoxide-unresponsive HI is to identify those with focal HI and to find an effective treatment regimen for those that cannot be cured by surgery (diffuse HI).

Original languageEnglish (US)
Title of host publicationContemporary Endocrinology
PublisherHumana Press Inc.
Pages33-47
Number of pages15
DOIs
StatePublished - Jan 1 2019
Externally publishedYes

Publication series

NameContemporary Endocrinology
ISSN (Print)2523-3785
ISSN (Electronic)2523-3793

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