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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Autors principals:	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:	Artigo
Idioma:	Inglês
Publicat:	Korean Society of Pediatric Endocrinology 2021-03-01
Col·lecció:	Annals of Pediatric Endocrinology & Metabolism
Matèries:	abcc8 congenital hyperinsulinism hypoglycemia monogenic diabetes midgut volvulus
Accés en línia:	http://e-apem.org/upload/pdf/apem-2040042-021.pdf
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