Congenital Hyperinsulinism in a Neonate Due to a Novel Homozygous Mutation (ABCC8): A case report

authors:

avatar H Parappil 1 , avatar S Rahman 1 , * , avatar A Soliman 2 , avatar A Ismail 3 , avatar I AL Bozom 4 , avatar K Hussain 5

Departments of Neonatology, Hamad Medical Corporation, Doha, State of Qatar
Departments of Endocrinology, Hamad Medical Corporation, Doha, State of Qatar
Departments of Surgery, Hamad Medical Corporation, Doha, State of Qatar
Departments of Pathology, Hamad Medical Corporation, Doha, State of Qatar
Department of Endocrinology, Great Ormand Street, Hospital for Children NHS Trust, London, and The Institute of Child Health, University College, London, UK

how to cite: Parappil H, Rahman S, Soliman A, Ismail A, Bozom I A, et al. Congenital Hyperinsulinism in a Neonate Due to a Novel Homozygous Mutation (ABCC8): A case report. Int J Endocrinol Metab. 2009;7(2):e94620.

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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