Pediatric Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
College of Medicine, King Saud bin Abdul-Aziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Front Endocrinol (Lausanne). 2024 Mar 8;15:1294264. doi: 10.3389/fendo.2024.1294264. eCollection 2024.
Maturity-onset diabetes of the young (MODY) is a grouping of monogenic disorders. It is characterized by dominantly inherited, non-insulin-dependent diabetes. MODY is relatively rare, encompassing up to 3.5% in those diagnosed under 30 years of age. Specific types are most commonly treated with sulfonylurea, particularly those identified as HNF4A-MODY and HNF1A-MODY. HNF1B-MODY is another type that is most frequently managed with insulin therapy but lacks a defined precision treatment. We present an 18-year-old, non-obese female patient diagnosed with HNF1B-MODY. She displays complete gene deletion, a renal cyst, and hypomagnesemia. Her treatment plan includes both long- and short-acting insulin, though she frequently encountered hypoglycemia and hyperglycemia. Semaglutide, a GLP-1RA, was administered weekly over 4 months. The patient's glucose level was continuously tracked using Dexcom's Continuous Glucose Monitoring system. The data suggested a notable improvement in her condition: time-in-range (TIR) increased from 70% to 88%, with some days achieving 100%, and the frequency of hypoglycemic episodes, indicated by time-below-range values, fell from 5% to 1%. The time-above-range values also dropped from 25% to 10%, and her HbA1c levels declined from 7% to 5.6%. During the semaglutide therapy, we were able to discontinue her insulin treatment. Additionally, her body mass index (BMI) was reduced from 24.1 to 20.1 kg/m. However, the semaglutide treatment was halted after 4 months due to side effects such as nausea, vomiting, and reduced appetite. Other contributing factors included exam stress and a COVID-19 infection, which forced a switch back to insulin. Her last recorded HbA1c level under exclusive insulin therapy rose to 7.1%, and her BMI increased to 24.9 kg/m. In conclusion, semaglutide could potentially replace insulin to improve glucose variability, TIR, and HbA1c in patients with HNF1B-MODY. However, more extensive studies are required to confirm its long-term safety and efficacy.
青少年发病的成年型糖尿病（MODY）是一组单基因疾病。其特征为显性遗传、非胰岛素依赖型糖尿病。MODY 相对少见，在 30 岁以下被诊断的患者中占 3.5%。特定类型的 MODY 通常使用磺脲类药物治疗，尤其是那些被确定为 HNF4A-MODY 和 HNF1A-MODY 的类型。HNF1B-MODY 是另一种类型，最常使用胰岛素治疗，但缺乏明确的精准治疗方法。我们介绍了一位 18 岁的非肥胖女性患者，她被诊断为 HNF1B-MODY。她表现为完全基因缺失、肾囊肿和低镁血症。她的治疗方案包括长效和短效胰岛素，但她经常出现低血糖和高血糖。在 4 个月的时间里，每周给予她司美格鲁肽(GLP-1RA)。使用 Dexcom 的连续血糖监测系统持续跟踪患者的血糖水平。数据显示她的病情有显著改善：时间在目标范围内（TIR）从 70%增加到 88%，有些日子达到了 100%，时间在目标范围以下（提示低血糖发作的时间）的频率从 5%下降到 1%。时间在目标范围以上的频率也从 25%下降到 10%，HbA1c 水平从 7%下降到 5.6%。在接受司美格鲁肽治疗期间，我们能够停止她的胰岛素治疗。此外，她的体重指数（BMI）从 24.1 降至 20.1kg/m。然而，由于司美格鲁肽治疗引起的恶心、呕吐和食欲减退等副作用，在 4 个月后停止了该治疗。其他促成因素包括考试压力和 COVID-19 感染，这迫使她重新开始使用胰岛素。在胰岛素单独治疗下，她的最后一次 HbA1c 记录水平升高至 7.1%，BMI 增加至 24.9kg/m。总之，司美格鲁肽可能通过改善 HNF1B-MODY 患者的血糖变异性、TIR 和 HbA1c，替代胰岛素。然而，需要进行更多的研究来证实其长期安全性和疗效。
