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International Journal of Endocrinology and Metabolism
Research Institute for Endocrine Sciences
e-ISSN 1726-9148
p-ISSN 1726-913X
Outline
Congenital Hyperinsulinism in a Neonate Due to a Novel Homozygous Mutation (ABCC8): A case report
Authors
1Departments of Neonatology, Hamad Medical Corporation, Doha, State of Qatar
2Departments of Endocrinology, Hamad Medical Corporation, Doha, State of Qatar
3Departments of Surgery, Hamad Medical Corporation, Doha, State of Qatar
4Departments of Pathology, Hamad Medical Corporation, Doha, State of Qatar
5Department of Endocrinology, Great Ormand Street, Hospital for Children NHS Trust, London, and The Institute of Child Health, University College, London, UK
*Corresponding Author: Departments of Neonatology, Hamad Medical Corporation, Doha, State of Qatar Email: [email protected]
Published online:Jun 30, 2009
Article type:Case Report
Received:May 29, 2019
Accepted:Jun 30, 2009
How to Cite:Parappil H, Rahman S, Soliman A, Ismail A, Bozom IA, 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. doi:
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.
References
- 1.The references are available in the PDF file.
Copyright
© 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.
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