Neonatal Diabetes

Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic d...

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Bibliographic Details
Published in:JIM - high impact case reports 2017-03, Vol.5 (1)
Main Authors: Sood, Shawn, Landreth, Hannah, Jessee, Bustinza, Chalmers, Laura, Thukaram Roopa
Format: Article
Language:English
Subjects:
Case reports
Diabetes
Diabetic ketoacidosis
Hypoglycemia
Mutation
Potassium
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Summary:Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic disorder. Case Report: We describe a case of a 9-week-old infant with neonatal diabetes who presented in diabetic ketoacidosis due to a mutation affecting the ABCC8 gene that encodes the SUR1 subunit of the potassium ATP channel. Conclusion: This genetic diagnosis has therapeutic implications regarding the initiation of sulfonylurea administration as 85% of patients with neonatal diabetes due to ABCC8 gene mutations can be successfully treated with oral sulfonylurea treatment.
ISSN:2324-7096
DOI:10.1177/2324709617698718