■糖原贮积病1b型(GSD-1b)的特征在于中性粒细胞中1,5-脱水葡萄糖醇-6-磷酸盐的积累产生的中性粒细胞减少和中性粒细胞功能障碍。钠-葡萄糖协同转运蛋白2抑制剂,比如empagliflozin,促进去除这种有毒代谢物并改善中性粒细胞减少症相关症状,包括严重感染和炎症性肠病(IBD)。我们的病例系列介绍了在三年的随访中,使用依帕列净治疗了三名小儿GSD-1b患者;迄今为止报告的随访时间最长。
■对3例小儿GSD-1b患者(2例男性和1例女性;开始治疗的年龄:4.5、2.5和6岁)进行了依帕列净治疗的回顾性分析。报告了在治疗引入前后长达三年的对称时期的临床和实验室数据。有关治疗的临床过程的数据,IBD活动,需要抗生素治疗和住院,中性粒细胞计数和功能,并评估炎症标志物。在引入依帕列净之前,患者有复发性口腔粘膜病变和感染,腹痛,和贫血。在依帕列净治疗期间,口疮性口炎的解决,腹痛的终止,减少感染的频率和严重程度,贫血的解决,食欲增加,在所有患者中观察到伤口愈合改善,以及其中两个的体重指数增加。在IBD患者中,长期深度缓解得到证实.增加和稳定的中性粒细胞计数和改善的中性粒细胞功能使所有患者停止G-CSF治疗。检测到炎症标志物降低的趋势。
■在三年的随访期内,依帕列净治疗显著改善临床症状,增加中性粒细胞计数和功能,提示靶向代谢治疗可以改善GSD-1b患者的免疫功能。
UNASSIGNED: Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction generated by the accumulation of 1,5-anhydroglucitol-6-phosphate in neutrophils. Sodium-glucose co-transporter 2 inhibitors, such as empagliflozin, facilitate the removal of this toxic metabolite and ameliorate neutropenia-related symptoms, including severe infections and inflammatory bowel disease (IBD). Our case series presents the treatment of three pediatric GSD-1b patients with empagliflozin over a follow-up of three years; the most extended reported follow-up period to date.
UNASSIGNED: A retrospective analysis of empagliflozin treatment of three pediatric GSD-1b patients (two male and one female; ages at treatment initiation: 4.5, 2.5 and 6 years) was performed. Clinical and laboratory data from a symmetrical period of up to three years before and after the therapy introduction was reported. Data on the clinical course of the treatment, IBD activity, the need for antibiotic treatment and hospitalizations, neutrophil count and function, and markers of inflammation were assessed. Prior the introduction of empagliflozin, patients had recurrent oral mucosa lesions and infections, abdominal pain, and anemia. During empagliflozin treatment, the resolution of aphthous stomatitis, termination of abdominal pain, reduced frequency and severity of infections, anemia resolution, increased appetite, and improved wound healing was observed in all patients, as well as an increased body mass index in two of them. In a patient with IBD, long-term deep remission was confirmed. An increased and stabilized neutrophil count and an improved neutrophil function enabled the discontinuation of G-CSF treatment in all patients. A trend of decreasing inflammation markers was detected.
UNASSIGNED: During the three-year follow-up period, empagliflozin treatment significantly improved clinical symptoms and increased the neutrophil count and function, suggesting that targeted metabolic treatment could improve the immune function in GSD-1b patients.