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Published on: November 16, 2011
Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8
Adele Figuccia1, Giuliana Vitaliti2, Claudia Avanti1
1Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities, University of Palermo, Palermo, ITA.
Insights
Persistent neonatal hypoglycemia linked to KCNJ11 and ABCC8 gene mutations can be challenging to treat. Octreotide showed promise in stabilizing glycemic levels when other treatments failed, highlighting the importance of genetic testing and targeted management.
Area of Science:
- Endocrinology
- Genetics
- Neonatal Medicine
Background:
- Persistent neonatal hypoglycemia is a serious condition.
- Mutations in KCNJ11 and ABCC8 genes cause defects in ATP-sensitive potassium channels, leading to hyperinsulinism.
- Non-specific symptoms can delay diagnosis.
Abstract:
We report two cases of persistent neonatal hypoglycemia associated with mutations in the KCNJ11 and ABCC8 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.
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