Glycogen storage disease type Ib (GSD Ib) is a rare hereditary glycogen disorder that results in inadequate maintenance of glucose homeostasis, accumulation of glycogen in different organs, loss and dysfunction of neutrophils. Crohn's-like disease is observed in up to 24-77% of GDS Ib cases. Recently, empagliflozin has been recommended as a treatment for neutrophil dysfunction in GDS Ib patients with or without Crohn's-like disease. There are no guidelines for the treatment of inflammatory bowel disease (IBD) manifestation in GSD Ib patients, although some cases have been treated with granulocyte colony-stimulating factor and others with IBD conventional therapy, resulting in partial IBD remission. Herein, we describe a child with GDS Ib and Crohn's-like disease who was treated with empagliflozin and achieved complete remission after 2 years of treatment. This case is the first one with such a long follow-up evaluation including endoscopic and magnetic resonance enterography assessment. Our clinical evidence of remission of IBD manifestation in our GSD Ib patient and the role of neutrophils in GDS Ib described in the literature suggest a strong association with IBD pathophysiology and neutrophil function. The use of empagliflozin resulted in significant improvements in gastrointestinal symptoms, reduced drug usage, and enhanced quality of life in the patient, with a favorable safety profile, offering a promising new therapeutic option for this population.

中文翻译：

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接受恩格列净治疗的 Ib 型糖原贮积病儿科患者的克罗恩病长期缓解：病例报告。

Ib 型糖原贮积病 (GSD Ib) 是一种罕见的遗传性糖原疾病，可导致葡萄糖稳态维持不足、不同器官中糖原积累、中性粒细胞损失和功能障碍。在高达 24-77% 的 GDS Ib 病例中观察到克罗恩病样疾病。最近，恩格列净被推荐用于治疗患有或不患有克罗恩病样疾病的 GDS Ib 患者的中性粒细胞功能障碍。目前尚无治疗 GSD Ib 患者炎症性肠病 (IBD) 表现的指南，尽管一些病例已接受粒细胞集落刺激因子治疗，另一些病例已接受 IBD 常规治疗，导致 IBD 部分缓解。在此，我们描述了一名患有 GDS Ib 和克罗恩病样疾病的儿童，他接受恩格列净治疗，并在治疗 2 年后获得完全缓解。该病例是第一个进行如此长时间的随访评估（包括内窥镜和磁共振肠造影评估）的病例。我们的 GSD Ib 患者 IBD 表现缓解的临床证据以及文献中描述的 GDS Ib 中中性粒细胞的作用表明与 IBD 病理生理学和中性粒细胞功能密切相关。恩格列净的使用显着改善了胃肠道症状，减少了药物使用，提高了患者的生活质量，并且具有良好的安全性，为该人群提供了一种有前途的新治疗选择。