Novel Compound Heterozygous Variants of the <i>ABCC8</i> Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism

Novel Compound Heterozygous Variants of the <i>ABCC8</i> Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism

Congenital hyperinsulinism (CHI) is characterized by dysregulated insulin secretion, resulting in severe hypoglycemia. Mutations in the <i>ABCC8</i> and <i>KCNJ11</i> genes encoding KATP channels in beta cells of the pancreas are common among patients with CHI. Autosomal rece...

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Bibliographic Details
Main Authors: Rana Al Balwi, Dalal Bubshait, Raed Al Nefily, Omar Al Ghamdi
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Children
Subjects:
congenital hyperinsulinism
diazoxide
<i>ABCC8</i>
Online Access:https://www.mdpi.com/2227-9067/8/10/836

Internet

https://www.mdpi.com/2227-9067/8/10/836

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