Arbelo Rodríguez María, Márquez Mesa Elena, Lorenzo González Cristina, Gutiérrez Vilar Marina, Arhip Loredana, Ruiz Pons Mónica, Suárez Llanos José Pablo
Endocrinology and Nutrition Department, Hospital Universitario Nuestra Señora de Candelaria, Ctra. Del Rosario 145, Santa Cruz de Tenerife 38010, Spain.
Pediatrics Department Hospital Universitario Nuestra Señora de Candelaria, Ctra. Del Rosario 145, Santa Cruz de Tenerife 38010, Spain.
Mol Genet Metab Rep. 2025 May 3;43:101226. doi: 10.1016/j.ymgmr.2025.101226. eCollection 2025 Jun.
Glycogen Storage Disease Ib (GSD Ib) is a disease that associates both neutropenia and neutrophil dysfunction, thereby causing recurrent infections and inflammatory bowel disease (IBD). As of now, the standard treatment of these complications has been the administration of granulocyte-stimulating factor (GCSF). However, recent studies have found that the use of empagliflozin, an antidiabetic drug, may have benefits by reducing the levels of 1,5 anhydroglucitol-6-phosphate (1,5-AG6P), a metabolite that accumulates in the cytosol of neutrophils and blocks the use of glucose.
We therefore report our experience with three patients, one of them being a liver and kidney transplant recipient, with promising results. Morbidity has been greatly reduced in all cases consisting in weight gain, better neutrophil count and management of respiratory, osteoarticular and gastrointestinal comorbidities. Overall, an improvement in quality of life has been observed.
SGLT2 inhibitors, and specifically empagliflozin offer promising results in improving morbidity and quality of life in patients with GSD Ib. In the cases presented, including a patient with double liver-kidney transplant, a good profile of tolerance, safety and effectiveness has been observed.
Empagliflozin offers promising results in improving morbidity and quality of life in patients with GSD Ib, including the first double organ transplant patient treated with this drug.
糖原贮积病Ib型（GSD Ib）是一种伴有中性粒细胞减少和中性粒细胞功能障碍的疾病，可导致反复感染和炎症性肠病（IBD）。目前，这些并发症的标准治疗方法是给予粒细胞集落刺激因子（GCSF）。然而，最近的研究发现，使用抗糖尿病药物恩格列净可能有益，因为它可以降低1,5-脱水葡萄糖醇-6-磷酸（1,5-AG6P）的水平，1,5-AG6P是一种在中性粒细胞胞质溶胶中积累并阻碍葡萄糖利用的代谢物。
因此，我们报告了3例患者的治疗经验，其中1例为肝肾移植受者，结果令人满意。所有病例的发病率均大幅降低，包括体重增加、中性粒细胞计数改善以及呼吸道、骨关节和胃肠道合并症的管理。总体而言，观察到生活质量有所改善。
钠-葡萄糖协同转运蛋白2（SGLT2）抑制剂，特别是恩格列净，在改善GSD Ib患者的发病率和生活质量方面显示出令人满意的结果。在所报道的病例中，包括1例肝肾联合移植患者，观察到了良好的耐受性、安全性和有效性。
恩格列净在改善GSD Ib患者的发病率和生活质量方面显示出令人满意的结果，包括首例接受该药物治疗的双器官移植患者。
