SUN-280 Sulfonylurea-Responsive Neonatal Diabetes: A Low Hanging Fruit That Has yet to Be Picked?

Abstract

INTRODUCTION We present 2 contrasting cases of Neonatal Diabetes (NDM) switched from insulin to sulfonylurea in infancy vs adolescence. Importance of having high index of suspicion, making prompt diagnosis, choosing the right therapy is highlighted. METHODOLOGY Case1 13 mo/Female born premature 34 weeks presented with hyperglycemia after birth requiring insulin. Mother herself reported "Type1 Diabetes" (T1DM) diagnosed at 3 weeks. Patient was started on Glyburide 0.1mg/kgBID at 2 weeks, titrated with insulin wean. Blood sugars improved, stable at Glyburide dose 0.2mg/kg/day. HbA1c 6.4%, no hypoglycemia. Genetic testing showed KCNJ11 mutation (c.602G>A). Mother's testing showed same mutation, switched to glyburide, doing well. Case2 13 yo/Male transferred care for "T1DM" on insulin pump, diagnosed at 6 days old. Mother herself reported "T1DM" diagnosed at 2 weeks, on insulin pump. Maternal cousin diagnosed at 1 week, reported to have ABCC8 mutation. Patient's A1c >14%, feeling burnt out. DNA sequencing showed ABCC8 gene mutation (c.4136G>A;p.arg1379His). Glyburide 0.1 mg/kgBID started, titrated weekly with insulin wean. He is currently insulin-free, blood sugars range 72-118 at glyburide dose 0.7 mg/kg/day. Mother's genetic testing pending. DISCUSSION/CONCLUSION Most diabetes in infancy are monogenic. Technology for NDM diagnosis has been available for at least a decade. Oral sulfonylureas may be used in patients with KCNJ11 or ABCC8 mutation. Prompt diagnosis can make dramatic impact on quality of life, as illustrated by Case 1 (likely to be insulin-free for life) vs Case 2 who was burnt out. More education for diabetes providers is paramount regarding NDM and its proper management.