A case report on congenital hyperinsulinism associated with ABCC8 nonsense mutation: Good response to octreotide / Journal of the ASEAN Federation of Endocrine Societies
Journal of the ASEAN Federation of Endocrine Societies
;
: 178-182, 2016.
Article
in English
| WPRIM
| ID: wpr-632805
ABSTRACT
@#<p style="text-align justify;">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).</p>
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Index:
WPRIM (Western Pacific)
Main subject:
Octreotide
/
Codon, Nonsense
/
Parturition
/
Congenital Hyperinsulinism
/
Diazoxide
/
Insulins
/
Glucose
/
Ketosis
/
Mutation
Limits:
Infant
/
Pregnancy
Language:
English
Journal:
Journal of the ASEAN Federation of Endocrine Societies
Year:
2016
Type:
Article
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