Work

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

Year: 2026

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.103829

Authors: Adele Figuccia, Giuliana Vitaliti, Claudia Avanti, Luca Di Bella, Salvino Marcello Vitaliti

Institution: University of Palermo

Language: English

Topic: Pancreatic function and diabetes

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7130437874