Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Ege University, İzmir, Türkiye.
Faculty of Medicine, Department of Pediatric Genetics, Ege University, İzmir, Türkiye.
J Pediatr Endocrinol Metab. 2023 Apr 17;36(6):592-597. doi: 10.1515/jpem-2022-0642. Print 2023 Jun 27.
Activating variants of the gene cause neonatal diabetes or maturity-onset diabetes of the young (MODY). We report three cases of MODY type 12 caused by variants in the encoding sulphonylurea receptor 1, and the experience of switching from insulin therapy to sulphonylurea therapy.
We describe a 12.5-year-old girl with permanent neonatal diabetes mellitus, and two diabetes mellitus cases with variants in the gene. Two of these cases were successfully switched from subcutaneous insulin to oral glibenclamide, with a marked improvement in glycemic control. In permanent neonatal diabetes case, glibenclamide dose was progressively increased to achieve a full dose (2 mg/kg/day) in 9 days. Nine months after starting oral sulphonylurea therapy, her blood glucose control dramatically improved and insulin therapy was discontinued.
We conclude that patients with gene variants can successfully switch from insulin to sulphonylureas.
基因的激活变体可导致新生儿糖尿病或青少年发病的成年型糖尿病（MODY）。我们报告了三例由编码磺酰脲受体 1 的 基因变异引起的 MODY 12 型病例，以及从胰岛素治疗转换为磺酰脲治疗的经验。
我们描述了一名 12.5 岁的女孩，她患有永久性新生儿糖尿病，还有两例患有 基因变异的糖尿病病例。其中两例患者成功地从皮下胰岛素转换为口服格列本脲，血糖控制明显改善。在永久性新生儿糖尿病病例中，格列本脲剂量逐渐增加，9 天内达到全剂量（2mg/kg/天）。开始口服磺酰脲类药物治疗 9 个月后，她的血糖控制显著改善，停止了胰岛素治疗。
我们得出结论，携带 基因变异的患者可以成功地从胰岛素转换为磺酰脲类药物。
