Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
نویسندگان
چکیده
منابع مشابه
Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation
Case presentation A baby boy with birth weight of 2.4kg at 35 weeks was born via Caesarian section. The boy was allowed feeding on demands, however he had the first onset of hypoglycemia at 2 hours of life. His blood sugar ranged from low reading to 2.5 mmol/L. The patient was treated with boluses of intravenous dextrose D10% followed by maintenance dextrose with its increasing strength in orde...
متن کاملPaternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism
BACKGROUND Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (which encode the SUR/KIR6.2 components of the pancreatic β-cell KATP channel) whereas focal CHI is d...
متن کاملCongenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of...
متن کاملCase report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.
We describe a patient with congenital hyperinsulinism with previously unreported pathological findings including normal to decreased number of insulin-positive cells with very few enlarged nuclei, aberrant distribution of glucagon-positive cells, and a non-insulin producing adenomatous focus of unusual morphology. Molecular analysis showed that the patient was a compound heterozygote for two mu...
متن کاملA Newborn with Congenital Hyperinsulinism having a Novel Homozygous Mutation in the ABCC8 Gene
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns and infants. It is characterized by the unregulated secretion of insulin from pancreatic Bcells in relation to blood glucose concentration. We reported the case of full term, appropriate for gestational age newborn suffered from CHI and developed severe and persistent hypoglycemia which unresponsive...
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ژورنال
عنوان ژورنال: Annals of Pediatric Endocrinology & Metabolism
سال: 2021
ISSN: 2287-1012,2287-1292
DOI: 10.6065/apem.2040042.021