Project information
- Category: Case Report
- Researchers:: Perera, I., Sherwood, B., Jensen, B., Legard, C., Patel, H.
Abstract
Neonatal Diabetes Mellitus (NDM) is a rare medical disease, with prevalence of 1 in 90,000 to 160,000 live births, with 31% of all preterm disease linked to monogenic causes. The disease is further differentiated into transient and permanent NDM. 40% of patients diagnosed with NDM are responsive to oral sulfonylureas (SU) due to expressed mutations of the ABCC8 or KCNJ11 genes, coding for potassium adenosine triphosphate (K-ATP) channels in the pancreatic ꞵ cells. SUs bind to the sulfonylurea receptor 1 (SUR1) subunit, closing the K-ATP channel and increasing the secretion of insulin from pancreatic ꞵ cells. Although SUs remain the mainstay of NDM treatment, these medications are traditionally only dosed and approved for hyperglycemic control in adults. Current treatment regimens suggest a high dose, 1 mg/kg/day, for patients with KCNJ11 neonatal diabetes. Our male neonate was born at 27 weeks via emergency cesarean section due to complete placenta previa and hemorrhage following perinatal betamethasone administration. Neonatal resuscitation was required for Apgars 3, 6, and 7 (at 1, 5, and 10-minutes respectively). During resuscitation, the patient was intubated and found to be hyperglycemic. He was subsequently started on Regular Humulin at 0.1 units/kg/dose subcutaneously (SQ) and increased to 0.2 units/kg/dose SQ before transfer to our facility. In our Neonatal Intensive Care Unit (NICU), the patient was kept on an insulin drip due to the small dose of SQ insulin necessary to cover for the patient's small bolus feed amounts. Meanwhile, the patient's genetic testing returned and he was found to be positive for the KCNJ11 NDM gene. He was slowly transitioned to oral feeds and started on glyburide. The patient failed his first glyburide wean but was successfully weaned on his second attempt and found to be euglycemic (blood glucose less than 200) prior to discharge home. This case report describes the unique and complicated clinical course of a premature neonate with an initially undifferentiated class of NDM requiring a microdose approach to both insulin and SU-based management. This report offers a concise recount of the applied diagnostic and therapeutic procedures. These lessons may be applied in the future for potential NDM cases. The authors received patient guardian consent to use their data for this report.
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