Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation. (March 2017)

• Record Type: Journal Article
• Authors: Sood, Shawn; Landreth, Hannah; Bustinza, Jessee; Chalmers, Laura; Thukaram, Roopa
• Is Part Of: Journal of investigative medicine high impact case reports. Volume 5:Number 1(2017)
• Publication Date: 2017-03
• Subjects: neonatal diabetes mellitus -- ABCC8 -- KATP -- diabetic ketoacidosis -- Kir6.2 -- KCNJ11 -- pediatric intensive care unit -- sulfonylurea; Internal medicine -- Periodicals; Medical care -- Periodicals; 616.005
• DOI: 10.1177/2324709617698718
• Languages: English
• ISSNs: 2324-7096

Abstract

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.