Abstract
ongenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycemia in infancy. It is characterized by the unregulated secretion of insulin from pancreatic β-cells in re-lation to blood glucose concentration. The most common form of CHI is associated with auto-somal recessive mutations in genes ABCC8 and KCNJ11, encoding the two subunits of the pan-creatic β-cell ATP sensitive potassium channel (KATP). When the disease presents in the neo-natal period, early diagnosis and maintenance of normoglycaemia are essential to prevent adverse neurodevelopmental outcomes. Prenatal diagno-sis of CHI with a known mutation is a promising new avenue which will ensure early and appro-priate postnatal intervention and improved long term outcome. We report a case of neonatal CHI due to homozygous recessive mutation in the ABCC8 gene. The parents were asymptomatic carriers of ABCC8 gene. A review of literature and update on the genetics of the disease is pre-sented in this article.
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© 2009, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.