Pezzotta Federico, Sarale Nicola, Spacco Giordano, Tantari Giacomo, Bertelli Enrica, Bracciolini Giulia, Secco Andrea, d'Annunzio Giuseppe, Maghnie Mohamad, Minuto Nicola, Bassi Marta
Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16126 Genoa, Italy.
Children (Basel). 2024 Oct 9;11(10):1225. doi: 10.3390/children11101225.
The case report shows the safety and efficacy of insulin treatment with Advanced Hybrid Closed Loop (AHCL) system in a young patient affected by permanent neonatal diabetes mellitus (PNDM) due to chromosome 8 deletion syndrome involving the GATA4 gene. In the first days of life, he presented hyperglycaemia and started an intravenous insulin infusion therapy, replaced by a continuous subcutaneous insulin infusion (CSII) with Medtronic Minimed 780G insulin pump (Medtronic, Northridge, CA, USA). At the age of 2 years, the off-label activation of SmartGuard automated insulin delivery mode led to a great improvement in glycaemic control, reaching all recommended targets. At the 1-month follow-up visit, Time in Range (TIR) increased from 66% to 79%, with a Time in Tight Range (TTIR) of 55% and a reduction of 11% in time in hyperglycaemia and of 2% in time in hypoglycaemia. During the entire follow-up, no episodes of ketoacidosis or severe hypoglycaemia were observed and the patient maintained the glycaemic recommended targets reached at 1 month. Maintaining optimal glycaemic control and reducing hyperglycaemia are essential for brain growth and neurocognitive development in young patients. AHCL use should be considered to ensure good glycaemic control in patients affected by neonatal diabetes.
该病例报告显示了先进混合闭环（AHCL）系统胰岛素治疗在一名因涉及GATA4基因的8号染色体缺失综合征而患永久性新生儿糖尿病（PNDM）的年轻患者中的安全性和有效性。在出生后的头几天，他出现高血糖并开始静脉胰岛素输注治疗，后被美敦力Minimed 780G胰岛素泵（美敦力，美国加利福尼亚州北岭）的持续皮下胰岛素输注（CSII）所取代。在2岁时，SmartGuard自动胰岛素输送模式的非标签激活使血糖控制得到了极大改善，达到了所有推荐目标。在1个月的随访中，血糖达标时间（TIR）从66%增加到79%，严格血糖达标时间（TTIR）为55%，高血糖时间减少了11%，低血糖时间减少了2%。在整个随访期间，未观察到酮症酸中毒或严重低血糖发作，患者维持了1个月时达到的血糖推荐目标。维持最佳血糖控制和减少高血糖对年轻患者的脑生长和神经认知发育至关重要。对于患新生儿糖尿病的患者，应考虑使用AHCL以确保良好的血糖控制。
