A Case Report on Congenital Hyperinsulinism Associated with ABCC8 Nonsense Mutation: Good Response to Octreotide
Keywords:
, congenital hyperinsulinism, PHHI, ABCC8 mutation, diazoxide, octreotide, KATP channelAbstract
A 2.4 kg baby boy born via Caesarian section at 35 weeks had the first onset of hypoglycemia at 2 hours of life. The infant required a glucose load of 30 mg/kg/min. Insulin level was 19.6 pmol/L (normal value 17.8-173.0) in the absence of ketosis. He was resistant to oral diazoxide but responded to octreotide infusion. The boy was found to be heterozygous for an ABCC8 nonsense mutation, p.R934*. We present our experience on the use of subcutaneous octreotide for 2 years for the treatment of diazoxide resistant congenital hyperinsulinism (CHI).
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