检索历史 清除

糖原累积病Ⅰb型（glycogen storage disease type Ⅰb,GSD Ⅰb）是一种常染色体隐性遗传性糖代谢异常疾病。GSD Ⅰb患者除具有糖原累积病Ⅰ型所共有的代谢异常表现外，还可出现中性粒细胞减少及反复感染、口腔和肠道黏膜溃疡、炎症性肠病、自身免疫性甲状腺炎等，而这些特殊症状的具体发生机制仍未被完全阐明。钠-葡萄糖协同转运蛋白2抑制剂可通过降低GSD Ⅰb患者血浆中1,5-脱水葡萄糖醇的浓度，提高其中性粒细胞计数并改善其功能，同时缓解相关临床症状，故而该药物被越来越多地应用于GSD Ⅰb患者的治疗。该文将对GSD Ⅰb患者中性粒细胞减少机制以及钠-葡萄糖协同转运蛋白2抑制剂在GSD Ⅰb疾病治疗的动物研究基础及临床应用进行综述。

Glycogen storage disease type Ⅰb（GSD Ⅰb）is an autosomal recessive genetic disease characterized by abnormal glycogen metabolism.The clinical manifestations include signs of metabolic abnormality of the typical GSD I，and the patients with GSD Ⅰb also have neutropenia and symptoms including recurrent infection，oral and intestinal mucosal ulcers，inflammatory bowel diseases and autoimmune thyroiditis.However，the detailed mechanism of GSD Ⅰb has not been clarified.Treatment with sodium-dependent glucose transporters 2（SGLT2）inhibitors improves both neutropenia and neutrophil function through reducing 1，5-anhydroglucitol（1，5-AG）in plasma，as well as alleviates the related clinical symptoms，so SGLT2 inhibitors are increasingly used in the treatment of GSD Ⅰb.Here it reviews the neutropenia mechanism and recent advances in animal-based research and clinical application of SGLT2 inhibitor therapy for GSD Ⅰb.