Oshiro Ayaka, Aotani Ryoichiro, Sakamoto Wakako, Kitazono Takanari, Ohkuma Toshiaki
Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
JCEM Case Rep. 2024 Oct 18;2(11):luae188. doi: 10.1210/jcemcr/luae188. eCollection 2024 Nov.
Permanent neonatal diabetes mellitus (PNDM) is a genetic disorder, characterized by a decrease in endogenous insulin secretion. Therefore, exogenous insulin supplementation plays a central role in controlling glycemia. Although adding a sulfonylurea can help to discontinue insulin, discontinuation is sometimes difficult when the sulfonylurea is administered at older ages. A 24-year-old woman with longstanding PNDM who had poor glycemic control using insulin (47 U/day) and high-dose glibenclamide (0.6 mg/kg/day), had successfully discontinued insulin after initiating the dipeptidyl peptidase-4 inhibitor sitagliptin (50 mg/day). Additionally, hemoglobin A1c levels decreased by 4.8%. Double dosing of sitagliptin and subsequent switching to the glucagon-like peptide-1 receptor agonist semaglutide (0.25 mg/week followed by 0.5 mg/week) further decreased hemoglobin A1c values, with graded improvements in endogenous insulin secretion. There were no episodes of hypoglycemia during which glibenclamide was titrated down from 0.6 to 0.4 mg/kg/day. Intra- and inter-day glucose variability as assessed by continuous glucose monitoring was also improved. In patients with PNDM, administration and dose escalation of incretin-based drugs, in addition to a high-dose sulfonylurea, could be a useful treatment strategy. This strategy may be helpful for discontinuing insulin, downtitrating sulfonylureas, and subsequent achievement of better glycemic control regarding long-term stability and short-term variability.
永久性新生儿糖尿病(PNDM)是一种遗传性疾病,其特征是内源性胰岛素分泌减少。因此,外源性胰岛素补充在控制血糖方面起着核心作用。虽然添加磺脲类药物有助于停用胰岛素,但在较年长时使用磺脲类药物时,有时难以停用胰岛素。一名患有长期PNDM的24岁女性,使用胰岛素(47 U/天)和高剂量格列本脲(0.6 mg/kg/天)时血糖控制不佳,在开始使用二肽基肽酶-4抑制剂西格列汀(50 mg/天)后成功停用了胰岛素。此外,糖化血红蛋白水平下降了4.8%。西格列汀加倍给药并随后换用胰高血糖素样肽-1受体激动剂司美格鲁肽(0.25 mg/周,随后0.5 mg/周)进一步降低了糖化血红蛋白值,内源性胰岛素分泌也有逐步改善。在格列本脲从0.6降至0.4 mg/kg/天的滴定过程中,未发生低血糖事件。通过持续葡萄糖监测评估的日内和日间血糖变异性也得到了改善。在PNDM患者中,除高剂量磺脲类药物外,给予肠促胰岛素类药物并增加剂量可能是一种有效的治疗策略。该策略可能有助于停用胰岛素、减少磺脲类药物剂量,并随后在长期稳定性和短期变异性方面实现更好的血糖控制。