Section of Adult and Pediatric Endocrinology, Diabetes, & Metabolism, Departments of Medicine and Pediatrics, The University of Chicago, Chicago, Illinois.
Medical University of Bialystok, Bialystok, Poland.
Pediatr Diabetes. 2018 May;19(3):393-397. doi: 10.1111/pedi.12599. Epub 2017 Dec 5.
Neonatal diabetes mellitus (NDM) caused by mutations in KCNJ11 can be successfully treated with high dose oral sulfonylureas; however, little data is available on the risk of hypoglycemia.
To determine the frequency, severity, and clinical significance of hypoglycemia in KCNJ11-related NDM.
Utilizing the University of Chicago Monogenic Diabetes Registry, parents completed an online questionnaire addressing hypoglycemia. Continuous glucose monitoring (CGM) data was available for 7 subjects.
Thirty subjects with KCNJ11-related permanent NDM (166 patient-years on sulfonylurea) had median sulfonylurea dose of 0.39 mg/kg/day (0.24-0.88 IQR, interquartile range) with median HbA1c 5.7% (39 mmol/mol) (5.5-6.1 IQR, 37-43 mmol/mol). Hypoglycemia (<70 mg/dL) was reported monthly once or less frequently in 89.3% of individuals, but 3 (10.7%) reported once weekly or more. Of all hypoglycemic episodes reported, none involved seizures or unconsciousness and thus did not meet the current ISPAD definition of severe hypoglycemia. Seven individuals wore a CGM for a total of 912 hours with blood sugars falling below 70 mg/dL for 5.8% of the time recorded, similar to ranges reported for people without diabetes.
In our cohort of KCNJ11-related permanent NDM, hypoglycemia is infrequent and mild despite the high doses of sulfonylurea used and near-normal level of glycemic control. Long-term follow-up on larger numbers will be required to clarify the incidence and determinants of hypoglycemia in this unique population.
由 KCNJ11 基因突变引起的新生儿糖尿病(NDM)可以通过大剂量口服磺酰脲类药物成功治疗;然而,关于低血糖的风险数据有限。
确定 KCNJ11 相关 NDM 中低血糖的频率、严重程度和临床意义。
利用芝加哥大学单基因糖尿病登记处,父母通过在线问卷回答有关低血糖的问题。有 7 名受试者的连续血糖监测(CGM)数据可用。
30 名 KCNJ11 相关永久性 NDM 患者(接受磺酰脲治疗 166 患者年)的磺酰脲剂量中位数为 0.39 毫克/公斤/天(0.24-0.88 IQR,四分位间距),中位糖化血红蛋白 5.7%(39 mmol/mol)(5.5-6.1 IQR,37-43 mmol/mol)。89.3%的个体报告每月低血糖(<70mg/dL)发作一次或更频繁,但 3 名(10.7%)报告每周一次或更频繁。报告的所有低血糖发作中,均未出现癫痫发作或无意识,因此不符合当前 ISPAD 对严重低血糖的定义。7 名患者佩戴 CGM 共计 912 小时,记录的血糖有 5.8%的时间低于 70mg/dL,与无糖尿病患者报告的范围相似。
在我们的 KCNJ11 相关永久性 NDM 队列中,尽管使用了高剂量的磺酰脲类药物且血糖控制接近正常水平,但低血糖仍较为罕见且程度较轻。需要对更大数量的患者进行长期随访,以阐明该独特人群中低血糖的发生率和决定因素。