A case report on congenital hyperinsulinism associated with ABCC8 nonsense mutation: Good response to octreotide.
- Author:
Suhaimi Hussain
1
;
Sarah Flanagan
2
;
Sian Ellard
2
Author Information
- Publication Type:Case Reports
- Keywords: Abcc8 Mutation; Phhi; Katp Channel
- MeSH: Male; Infant; Codon, Nonsense; Congenital Hyperinsulinism; Diazoxide; Glucose; Infant; Insulins; Ketosis; Octreotide; Parturition; Pregnancy; Mutation
- From: Journal of the ASEAN Federation of Endocrine Societies 2016;31(2):178-182
- CountryPhilippines
- Language:English
-
Abstract:
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).
- Full text:340-Article Text-4095-1-10-20161128.pdf