ESPE Abstracts

Introduction: NDM is a rare disease diagnosed in the first 12 months of life. It is either transient or permanent. Early recognition of mutation in KCNJ11 and ABCC8, which account for approximately 40% of NDM, is essential to consider oral sulfonylurea for responsiveness mutations.

Aim: To study the efficacy and safety of oral sulfonylurea in a long-term follow-up (15 years) for the first successful switch from insulin to oral sulfonylurea in a patient with KCNJ11 gene mutation(R201H) in the Arabian Gulf.

Method: This is a long-term follow-up study of 15 years for the first case of successful transfer from insulin to oral sulfonylurea in the Arabian Gulf at the age of 3 years of life in 2007 after being diagnosed with a mutation in the KCNJ11 gene (R201H). Data were retrospectively collected from clinic visit records for the glycemic control, sulfonylurea dose, side effect, diabetes complication, growth, development, and neurological feature.

Result: Over the 15 years, the patient was on an oral sulfonylurea (glibenclamide) alone at a dose of 0.1-0.3 mg/kg/day, except in the last visit, due to limited supply, the patient switched to gliclazide MR equivalent dose. During that period, she showed excellent glycemic control; her HbA1c level was in the range of 5.8%-6.7% over the 15 years of glibenclamide therapy, except recently when an adult physician saw her in a periphery clinic who shifted her to insulin therapy and discontinued glibenclamide after which her HbA1c increased to 8.9 %. Fortunately, her mother returned, the patient resumed glibenclamide, discontinued insulin therapy, and then her HbA1c dropped to 6.8%. The patient doesn't show diabetes complications except for a mild increase in LDL due to familial dyslipidemia. The patient reached complete puberty. Her final height is 151 cm on the 25 % of the Saudi growth chart (mid-parental height was 154 cm), BMI was 28.4 kg/m2. She has good academic college performance and normal neurological exam.

Conclusion: Oral sulfonylurea is effective in maintaining excellent glycemic control over the long term in a patient with KCNJ11 gene mutation (R201H), and it is well tolerated without side effects. Awareness about NDM among adult physicians is a priority for the best outcome for this group of patients.

Reference: Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene. Ann Saudi Med 2010; 30(2): 162-164 PMID: 20220270 DOI: 10.4103/0256-4947.60526