Congenital Hyperinsulinism in a Neonate Due to a Novel Homozygous Mutation (ABCC8): A case report
| Author | H Parappil | en |
| Author | S Rahman | en |
| Author | A Soliman | en |
| Author | A Ismail | en |
| Author | I AL Bozom | en |
| Author | K Hussain | en |
| Issued Date | 2009-04-30 | en |
| 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. | en |
| DOI | https://doi.org/ | en |
| Keyword | Glucose | en |
| Keyword | Insulin | en |
| Keyword | Hypoglycemia | en |
| Keyword | Congenital hyperinsulinism | en |
| Publisher | Brieflands | en |
| Title | Congenital Hyperinsulinism in a Neonate Due to a Novel Homozygous Mutation (ABCC8): A case report | en |
| Type | Case Report | en |
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