Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20 year-old man evaluated for factitious hypoglycemia.
نویسندگان
چکیده
منابع مشابه
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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...
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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...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2016
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2016-3254