Szmuilowicz Emily D, Fruzyna Ellen, Madden Nigel, Bolden Janelle R, Kozek Anne, Vucko Erika, Ghossein Cybele, Barish Grant
Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
AACE Clin Case Rep. 2024 Jul 27;10(6):224-228. doi: 10.1016/j.aace.2024.07.008. eCollection 2024 Nov-Dec.
BACKGROUND/OBJECTIVE: Fanconi-Bickel Syndrome (FBS) is an inherited disorder of glucose metabolism resulting from functional loss of glucose transporter 2 characterized by fasting hypoglycemia oscillating with postprandial hyperglycemia. Dysglycemia treatment strategies during FBS pregnancy have not been reported, and insulin therapy carries significant risk due to fasting hypoglycemia in FBS. We report for the first time: (1) glycemic profiles obtained via continuous glucose monitoring (CGM), (2) CGM-guided strategies for cornstarch and nutritional therapy for fasting hypoglycemia and postprandial hyperglycemia, respectively, and (3) placental glucose transporter 2 isoform expression in a pregnant individual with FBS.
A 27-year-old woman with FBS presented at 6 weeks gestation for management of fasting hypoglycemia and postprandial hyperglycemia. Cornstarch therapy for fasting hypoglycemia and nutritional therapy for postprandial hyperglycemia were iteratively adjusted across gestation based on CGM-derived glycemic patterns. Pregnancy-specific glycemic targets were successfully achieved, and she delivered a healthy term infant. Glucose transporter 2 isoform was not detected in placental tissue.
We report for the first time glycemic patterns across gestation in a pregnant individual with FBS. Glycemic targets were achieved through stepwise optimization of nutritional and cornstarch therapy, both guided by CGM data. Our approach obviated the need for insulin therapy, which carries amplified risk in FBS.
Fasting hypoglycemia and postprandial hyperglycemia can be effectively treated through CGM-guided adjustment of both nutritional and glucose polymer therapies in FBS pregnancy. More broadly, our case highlights a novel application for CGM in the management of uncommon glucose metabolism disorders during pregnancy.
背景/目的：范科尼-比克尔综合征（FBS）是一种遗传性葡萄糖代谢紊乱疾病，由葡萄糖转运蛋白2功能丧失引起，其特征为空腹低血糖与餐后高血糖交替出现。FBS孕期血糖异常的治疗策略尚未见报道，且由于FBS患者存在空腹低血糖，胰岛素治疗具有显著风险。我们首次报告：（1）通过持续葡萄糖监测（CGM）获得的血糖谱；（2）分别针对空腹低血糖和餐后高血糖的CGM指导下的玉米淀粉及营养治疗策略；（3）一名FBS孕妇胎盘葡萄糖转运蛋白2异构体的表达情况。
一名27岁患有FBS的女性在妊娠6周时因空腹低血糖和餐后高血糖前来就诊。基于CGM得出的血糖模式，在整个孕期对空腹低血糖的玉米淀粉治疗和餐后高血糖的营养治疗进行了反复调整。成功实现了孕期特定的血糖目标，她分娩出一名足月健康婴儿。在胎盘组织中未检测到葡萄糖转运蛋白2异构体。
我们首次报告了一名FBS孕妇整个孕期的血糖模式。通过在CGM数据指导下逐步优化营养和玉米淀粉治疗，实现了血糖目标。我们的方法避免了胰岛素治疗的需要，而胰岛素治疗在FBS中风险更大。
在FBS孕期，通过CGM指导调整营养和葡萄糖聚合物治疗，可有效治疗空腹低血糖和餐后高血糖。更广泛地说，我们的病例突出了CGM在孕期罕见葡萄糖代谢紊乱管理中的新应用。
