Report an error   


Submitted: 05 April 2017 Modified: 07 April 2017
HERDIN Record #: PCHRD17040511370954

A case report on congenital hyperinsulinism associated with ABCC8 nonsense mutation: Good response to octreotide.

Suhaimi Hussain,
Sarah Flanagan,
Sian Ellard

See More

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).

Publication Type
Journal
Publication Sub Type
Case report
Title
Journal of the ASEAN Federation of Endocrine Societies
Frequency
Semi-Annual
Publication Date
November 2016
Volume
31
Issue
2
Page(s)
178-182
LocationLocation CodeAvailable FormatAvailability
Philippine Council for Health Research and Development Library Box No.116 Fulltext Print Format (Request Document)

Copyright © One Window Project 2018. All rights reserved.