Serviço de Endocrinologia, Centro Hospitalar Universitário Lisboa Norte EPE, Lisboa, Portugal.
Serviço de Medicina I, Centro Hospitalar Universitário Lisboa Norte EPE, Lisboa, Portugal.
BMJ Case Rep. 2021 Mar 25;14(3):e240489. doi: 10.1136/bcr-2020-240489.
A 22-year-old woman with type Ia glycogen storage disease was referred to the endocrinology department with new-onset diabetes mellitus-glycated haemoglobin (HbA1c) of 8.2%. She had suffered from repeated bouts of hypoglycaemia since the first days of her life. The diagnosis was made at 5 months old, after clinical investigations revealed mixed dyslipidaemia, lactic acidosis and hepatomegaly. Compound heterozygosity was documented at the age of 4. The basis of her initial treatment was starch and reinforced soy milk, ingested multiple times a day and night. The patient suffered from obesity since childhood. This case shows a rare association between glycogen storage disease type Ia and diabetes mellitus. A multidisciplinary approach was implemented. Through diet and use of flash continuous glucose monitoring, we were able to improve patient's adherence and metabolic profile. Hypoglycaemia and hyperglycaemia risk significantly decreased; 86% time in range (70-180 mg/dL), 6% hypoglycaemia and 6.3% HbA1c in recent evaluations.
一位 22 岁的Ⅰa 型糖原贮积病女性患者因新发糖尿病（糖化血红蛋白 [HbA1c] 为 8.2%）被转至内分泌科。她从出生后第 1 天起就反复出现低血糖。5 个月大时，经临床检查发现混合性血脂异常、乳酸性酸中毒和肝肿大，确诊为 1a 型糖原贮积病。4 岁时，发现该患者为复合杂合子。初始治疗以淀粉和强化豆浆为主，每日多次摄入。该患者从小就肥胖。本病例显示 1a 型糖原贮积病与糖尿病之间存在罕见关联。通过多学科方法进行治疗。通过饮食和使用闪光连续血糖监测，我们能够提高患者的依从性和代谢指标。低血糖和高血糖风险显著降低；最近的评估结果显示，86%时间血糖在目标范围内（70-180mg/dL），6%出现低血糖，6.3%HbA1c。
