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Nat Rev Endocrinol. 2010 Jun;6(6):347-51. doi: 10.1038/nrendo.2010.42. Epub 2010 Apr 6.

Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age.

Author information

1
Peninsula Medical School, Barrack Road, Exeter EX2 5DW, UK.

Abstract

BACKGROUND:

A 17-year-old female was referred for the reassessment of her type 1 diabetes mellitus, with which she had been diagnosed at the age of 15 weeks owing to symptoms of ketoacidosis. The patient had mild learning difficulties, which resulted in her requiring additional support at school. There was no family history of diabetes.

INVESTIGATIONS:

Measurements of plasma C-peptide and glutamate decarboxylase autoantibodies. Molecular genetic testing was performed.

DIAGNOSIS:

Intermediate developmental delay, epilepsy and neonatal diabetes mellitus (DEND) syndrome as a result of a 59V>M Kir6.2 mutation.

MANAGEMENT:

Treatment with high-dose oral glibenclamide replaced insulin treatment. Good glycemic control was achieved with levels of HbA(1c) consistently below 6.5% and no hypoglycemia.

PMID:
20368737
DOI:
10.1038/nrendo.2010.42
[Indexed for MEDLINE]

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