Abstract：
Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on efficacy and safety of empagliflozin in infants with GSD 1b. This is an international retrospective case series on 21 GSD 1b infants treated with empagliflozin (total treatment time 20.6 years). Before starting empagliflozin (at a median age of 8.1 months with a median dose of 0.3 mg/kg/day) 12 patients had clinical signs and symptoms of neutrophil dysfunction. Six of these previously symptomatic patients had no further neutropenia/neutrophil dysfunction-associated findings on empagliflozin. Eight patients had no signs and symptoms of neutropenia/neutrophil dysfunction before start and during empagliflozin treatment. One previously asymptomatic individual with a horseshoe kidney developed a central line infection with pyelonephritis and urosepsis during empagliflozin treatment. Of the 10 patients who were treated with G-CSF before starting empagliflozin, this was stopped in four and decreased in another four. Eleven individuals were never treated with G-CSF. While in 17 patients glucose homeostasis remained stable on empagliflozin, four showed glucose homeostasis instability in the introductory phase. In 17 patients, no other side effects were reported, while genital (n = 2) or oral (n = 1) candidiasis and skin infection (n = 1) were reported in the remaining four. Empagliflozin had a good effect on neutropenia/neutrophil dysfunction-related signs and symptoms and a favourable safety profile in infants with GSD 1b and therefore qualifies for further exploration as first line treatment.
摘要：
Empagliflozin已成功用于治疗糖原贮积病1b型（GSD1b）患者的中性粒细胞减少症和中性粒细胞功能障碍。然而,婴儿的数据缺失。我们报告了empagliflozin在GSD1b婴儿中的疗效和安全性。这是21例GSD1b婴儿接受依帕列净治疗的国际回顾性病例系列（总治疗时间20.6年）。在开始使用依帕列净（中位年龄为8.1个月，中位剂量为0.3mg/kg/天）之前，有12例患者出现中性粒细胞功能障碍的临床体征和症状。这些先前有症状的患者中有6名在依帕列净上没有进一步的中性粒细胞减少症/中性粒细胞功能障碍相关发现。八名患者在开始之前和在依帕列净治疗期间没有中性粒细胞减少症/中性粒细胞功能障碍的体征和症状。一名先前无症状的马蹄肾患者在依帕列净治疗期间出现了肾盂肾炎和尿败血症的中线感染。在开始使用依帕列净之前接受G-CSF治疗的10例患者中，这在四个人中停止了，在另外四个人中减少了。11个人从未用G-CSF治疗。而在17例患者中，依帕列净的血糖稳态保持稳定，其中4例显示了导入期的葡萄糖稳态不稳定.在17名患者中，没有其他副作用的报道，而其余4例报告了生殖器（n=2）或口腔（n=1）念珠菌病和皮肤感染（n=1）。Empagliflozin对GSD1b婴儿的中性粒细胞减少/中性粒细胞功能障碍相关体征和症状具有良好的安全性，因此有资格作为一线治疗进一步探索。
