Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8 Mutation

Cureus 2026 Open access

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Authors: Adele Figuccia, Giuliana Vitaliti, Claudia Avanti, Luca Marco Di Bella, Salvino Marcello Vitaliti
DOI: 10.7759/cureus.103829
Cited by: 0
References: 16

Abstract

genes, encoding the Kir6.2 and SUR1 subunits of the adenosine triphosphate-sensitive potassium channel. In both cases, symptoms were non-specific and initially attributed to other conditions, including suspected infection. Standard treatment with enteral and parenteral glucose infusions failed to restore euglycemia. Diazoxide was administered without a clinical response. Both patients were then treated with octreotide, resulting in stabilization of glycemic levels. Genetic testing confirmed the presence of pathogenic variants consistent with congenital hyperinsulinism. Early identification and targeted management were crucial to achieving metabolic control.

Fields of Study & Subjects

Pancreatic function and diabetes Ion channel regulation and function Metabolism and Genetic Disorders

Publication details

Journal / source
Cureus
Volume
18
Issue
2
Pages
e103829–e103829
Publication date
18 February 2026
Language
EN