Department of Endocrinology and Metabolism, The First People's Hospital of Changde City, Changde, Hunan, China.
Medicine (Baltimore). 2022 Dec 30;101(52):e32510. doi: 10.1097/MD.0000000000032510.
Glycogen storage disease (GSD) is a glycogen metabolism disorder caused by congenital enzyme defects, with type I being the most common. Owing to the rarity of glycogen storage disease type Ia (GSD Ia) and the involvement of diverse systems, patients are prone to delayed diagnosis and inappropriate treatment. Additional studies are required to standardize the diagnosis and treatment of GSD Ia.
We report 2 cases of GSD Ia that occurred in 2 sisters. The elder sister also had recurrent pancreatitis, and the pancreatic pseudocyst rupture resulted in sepsis, portal hypertension, and splenic infarction. The younger sister had the same mutation site, but the clinical phenotypes were not identical.
Abdominal computed tomography and laboratory examinations revealed regional portal hypertension, splenic infarction, and sepsis in the elder sister; diagnosis was confirmed by whole exome sequencing. Sanger sequencing was used to confirm that the younger sister and their parents also had the mutation site.
The elder sister was treated with corn starch therapy, and medication for antiinfection and reducing hypertriglyceridemia, inhibiting trypsin activity, relieving hyperuricemia. The younger sister was treated with raw cornstarch-based nutritional therapy and sodium bicarbonate.
The elder sister's infection was controlled and she gradually returned to a normal diet. After discharge, hyperlipidemia was not controlled satisfactorily, but hypoglycemia, hyperuricemia, hyperlactatemia, and anemia improved.
GSD should be considered in childhood patients with hypoglycemia, hypertriglyceridemia, hyperuricemia, and hyperlactatemia. Gene sequencing can enable quick identification of GSD subtypes. This case report highlights the common clinical manifestations can be linked to rare diseases. Clinical work requires careful observation of the correlations between patient history, physical examinations, and laboratory examinations.
糖原贮积病（GSD）是一种由先天性酶缺陷引起的糖原代谢紊乱，其中 I 型最为常见。由于糖原贮积病 Ia 型（GSD Ia）的罕见性和涉及的多种系统，患者容易出现延迟诊断和不适当的治疗。需要进一步的研究来规范 GSD Ia 的诊断和治疗。
我们报告了 2 例发生在 2 姐妹中的 GSD Ia 病例。姐姐还反复发生胰腺炎，胰腺假性囊肿破裂导致脓毒症、门静脉高压和脾梗死。妹妹有相同的突变位点，但临床表型并不相同。
腹部计算机断层扫描和实验室检查显示姐姐存在区域性门静脉高压、脾梗死和脓毒症；通过全外显子组测序确诊。对妹妹和他们的父母进行 Sanger 测序以确认他们也存在突变位点。
姐姐接受了玉米淀粉治疗，并接受抗感染、降低甘油三酯、抑制胰蛋白酶活性、缓解高尿酸血症的药物治疗。妹妹接受了生玉米淀粉为基础的营养治疗和碳酸氢钠治疗。
姐姐的感染得到控制，并逐渐恢复正常饮食。出院后，高血脂未得到满意控制，但低血糖、高尿酸血症、高乳酸血症和贫血得到改善。
对于儿童期出现低血糖、高甘油三酯血症、高尿酸血症和高乳酸血症的患者，应考虑 GSD。基因测序可以快速识别 GSD 亚型。本病例报告强调了常见的临床表现可以与罕见疾病相关。临床工作需要仔细观察患者病史、体格检查和实验室检查之间的相关性。
