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

AUTHORS

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

AUTHORS INFORMATION

1 Departments of Neonatology, Hamad Medical Corporation, Doha, State of Qatar

2 Departments of Endocrinology, Hamad Medical Corporation, Doha, State of Qatar

3 Departments of Surgery, Hamad Medical Corporation, Doha, State of Qatar

4 Departments of Pathology, Hamad Medical Corporation, Doha, State of Qatar

5 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.

ARTICLE INFORMATION

International Journal of Endocrinology and Metabolism: 7 (2); e94620
Published Online: June 30, 2009
Article Type: Case Report
Received: May 29, 2019
Accepted: June 30, 2009

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CHEKING

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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.

Keywords

Glucose Insulin Hypoglycemia Congenital hyperinsulinism

© 2009, International Journal of Endocrinology and Metabolism. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

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