Session: SUN 596-623-Case Reports: Pediatric Endocrinology & Metabolism
Poster Board SUN-611
Activating mutation in the KCJN11 gene is the cause of 30-50% of permanent neonatal diabetes. Besides having neonatal diabetes, some patients with this mutation also manifest with developmental delays and epilepsy, thus designated to have DEND syndrome. This case presents a patient with DEND and his successful transition from insulin therapy to oral glyburide.
Patient is an African American male, a product of 39 weeks gestation complicated by gestational diabetes. He was delivered by CS for fetal heart deceleration. Birthweight was 2582 grams (3%). At 3 months of age, he presented in DKA , with hemoglobin A1c of 13.7%, C-peptide of < 0.5 (0.8-3.5 ng/ml) , and negative insulin and islet cell antibodies. Patient was initially maintained on subcutaneous injections of NPH and aspart insulin. At 6 months of age, therapy was changed to insulin pump due to multiple episodes of hypoglycemia. Developmental delay was noted by 6 months of age. At 2 years of age, he was found to be heterozygous for a missense mutation (R50P)in the KCNJ11 gene (genetic study performed by Dr. Andrew Hattersley’s laboratory) . Both parents were negative for this mutation. At 2 10/12 years of age, patient was admitted for transitioning to oral glyburide( Dr. Hattersley’s protocol). Attempt to transition was discontinued when he developed ketosis.
At 6 years of age, he was still unable to stand alone. He did not speak any meaningful word but made random sounds. At this age, he had several episodes of tonic clonic seizures. After evaluation by neurology service and documentation of abnormal EEG, patient was started on antiseizure medication.
At 6 6/12 years of age, he was admitted again for transitioning to oral glyburide. Glyburide was initially started at 0.1 mg/kg/day and dose was gradually increased while insulin dose was correspondingly tapered down. Except for transient diarrhea and vomiting when glyburide was started, patient exhibited no other side effects. No further seizures occurred up to the present. Patient started to walk with slow broad based gait three months after glyburide therapy was initiated.
Patient was completely off insulin therapy six months after initiation of oral glyburide. Current dose of glyburide is at 1.9 mg/kg/day. Prior to transitioning to glyburide, hemoglobin A1c was 9% and C-peptide was < 1 ng/ml. At 14 months after transitioning to glyburide, hemoglobin A1c was 6.4 % and C-peptide level was 1.1 ng/ml.
This case illustrates that oral glyburide is an effective therapy for glycemic control in this patient with DEND due to KCNJ11 mutation. It also emphasizes the importance of testing for this mutation in patients presenting with neonatal diabetes .
Nothing to Disclose: SPA, MDU
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