Neonatal Diabetes: Case Report Of A 9-Week-Old Presenting Diabetic Ketoacidosis Due To An Activating Abcc8 Gene Mutation
JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS(2017)
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.
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Key words
neonatal diabetes mellitus, ABCC8, KATP, diabetic ketoacidosis, Kir6.2, KCNJ11, pediatric intensive care unit, sulfonylurea
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