Cohn Aviva, Ohri Anupam
Department of Internal Medicine, Rutgers Robert Wood Johnson Medical School, 1 RWJ Place, MEB 486 PO Box 19, New Brunswick, NJ, 08903, USA.
J Med Case Rep. 2017 Nov 12;11(1):319. doi: 10.1186/s13256-017-1462-5.
Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment.
We describe a case of a 34-year-old woman of South Asian descent with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young adult. Hyperglycemia was noted after childbirth, and worsened years later. Treatment for diabetes was difficult due to risks of hypoglycemia from her underlying glycogen storage disease. With minimal hypoglycemic events, the patient's blood glucose improved with exercise in combination with a sodium-glucose co-transporter 2 inhibitor and an alpha glucosidase inhibitor.
We report a rare case of diabetes in the setting of glycogen storage disease-Ia. Based on the literature, there appears to be a relationship between glycogen storage disease and metabolic syndrome, which likely plays a role in the pathogenesis. The management of glycemic control remains a clinical challenge, requiring management of both fasting hypoglycemia from glycogen storage disease, as well as post-prandial hyperglycemia from diabetes mellitus.
I型糖原贮积病是一种遗传性疾病，与持续性空腹低血糖及无法产生内源性葡萄糖有关。糖原贮积病合并糖尿病的情况极为罕见。这些患者发生糖尿病的潜在发病机制尚不清楚，且尚无治疗指南。
我们描述了一例34岁南亚裔女性I型糖原贮积病患者，其在年轻时发展为未控制的糖尿病。产后发现高血糖，数年后病情恶化。由于其潜在的糖原贮积病存在低血糖风险，糖尿病治疗困难。在低血糖事件极少的情况下，患者通过运动联合钠-葡萄糖协同转运蛋白2抑制剂和α-葡萄糖苷酶抑制剂，血糖得到改善。
我们报告了一例罕见的I型糖原贮积病合并糖尿病病例。根据文献，糖原贮积病与代谢综合征之间似乎存在关联，这可能在发病机制中起作用。血糖控制的管理仍然是一项临床挑战，需要同时处理糖原贮积病引起的空腹低血糖以及糖尿病引起的餐后高血糖。
