Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. We report 2 patients that experienced severe HH fr...

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Bibliographic Details
Main Authors: Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2021-03-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
abcc8
congenital hyperinsulinism
hypoglycemia
monogenic diabetes
midgut volvulus
Online Access:http://e-apem.org/upload/pdf/apem-2040042-021.pdf

Internet

http://e-apem.org/upload/pdf/apem-2040042-021.pdf

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