A Case Report on Congenital Hyperinsulinism Associated with ABCC8 Nonsense Mutation: Good Response to Octreotide

Autor:	Suhaimi Hussain, Sarah Flanagan, Sian Ellard
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	congenital hyperinsulinism PHHI ABCC8 mutation diazoxide octreotide Diseases of the endocrine glands. Clinical endocrinology RC648-665
Zdroj:	Journal of the ASEAN Federation of Endocrine Societies, Vol 31, Iss 2 (2016)
Druh dokumentu:	article
ISSN:	0857-1074 2308-118X
Popis:	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).
Databáze:	Directory of Open Access Journals
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