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

H Parappil; S Rahman; A Soliman; A Ismail; I AL Bozom; K Hussain

International Journal of Endocrinology and Metabolism

Research Institute for Endocrine Sciences

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

Author(s):

H Parappil¹,

S Rahman^1,*,

A Soliman²,

A Ismail³,

I AL Bozom⁴,

K Hussain⁵

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

International Journal of Endocrinology and Metabolism:Vol. 7, issue 2; e94620

Published online:Jun 30, 2009

Article type:Case Report

Received:May 29, 2019

Accepted:Jun 30, 2009

How to Cite:H ParappilS RahmanA SolimanA IsmailI AL BozomK Hussainet al.Congenital Hyperinsulinism in a Neonate Due to a Novel Homozygous Mutation (ABCC8): A case report.Int J Endocrinol Metab.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.

Keywords

Glucose

Insulin

Hypoglycemia

Congenital hyperinsulinism

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