恩格列净在糖原贮积病Ⅰb型患儿中的应用现状调查

Investigation on the treatment of empagliflozin in glycogen storage disease typeⅠb

目的探讨恩格列净治疗糖原贮积病Ⅰb型(GSDⅠb)患儿的用药剂量、安全性和有效性。方法横断面研究。选择糖原贮积症病友微信群中2021年1月至2023年6月开始口服恩格列净治疗的28例GSDⅠb患儿为研究对象,于2023年6月18日至30日通过调查问卷收集患儿一般情况、恩格列净用药情况以及不良反应等临床资料,采用配对χ^(2)检验及Wilcoxon秩和检验比较用药前后症状、实验室检查的差异。结果28例GSDⅠb患儿来自中国12个不同省、自治区、直辖市,男14例、女14例,开始接受恩格列净治疗的年龄4.8(2.4,10.8)岁,治疗时间14.5(11.3,21.5)个月,起始用药剂量(0.23±0.11)mg/(kg·d),维持用药剂量(0.28±0.12)mg/(kg·d)。在恩格列净用药后患儿中性粒细胞减低程度和炎性肠病样症状严重程度明显低于用药前(Z=-3.70、-2.65,均P<0.05)。反复口腔溃疡、反复细菌感染、贫血人数所占比例均明显低于用药前[18%(5/28)比46%(13/28)、14%(4/28)比46%(13/28)、21%(6/28)比46%(13/28),χ^(2)=4.05、5.26、3.05,均P<0.05],5例长期应用粒细胞集落刺激因子改善中性粒细胞计数的患儿,在使用恩格列净治疗后均可完全停用。恩格列净治疗期间常见的不良反应为低血糖(5例)及泌尿系感染(3例),未见严重不良反应发生。结论应用较小剂量恩格列净可增加GSDⅠb患儿中性粒细胞计数,改善反复口腔溃疡、反复细菌感染等症状,常见不良反应为低血糖和泌尿系感染。

Objective To investigate the safety,efficacy and effective dose of empagliflozin in the treatment of glycogen storage disease typeⅠb(GSDⅠb).Method This was a cross sectional study.A total of 28 children with GSDⅠb who started oral empagliflozin treatment from January 2021 to June 2023 in the WeChat group of patients with glycogen storage disease were selected as the study objects.Clinical data such as general situation,current situation of medication and adverse reactions of the children were collected through questionnaires from June 18 to 30,2023.The differences of symptoms and laboratory tests before and after empagliflozin treatment were compared by using paired chi-square test and Wilcoxon signed rank sum test.Results Totally 28 children with GSDⅠb were from 12 different provinces,autonomous regions and municipalities in China.There were 14 males and 14 females.Empagliflozin treatment was started at the age of 4.8(2.4,10.8)years,the time of treatment was 14.5(11.3,21.5)months,the initial dosage was(0.23±0.11)mg/(kg·d),and the maintenance dosage was(0.28±0.12)mg/(kg·d).Empagliflozin showed positive effects on neutropenia,severity of inflammatory bowel disease like symptoms(Z=-3.70,-2.65,both P<0.05),The proportion of recurrent oral ulcers,recurrent bacterial infections and anemia was significantly lower than that before medication(18%(5/28)vs.46%(13/28),14%(4/28)vs.46%(13/28),21%(6/28)vs.46%(13/28),χ^(2)=4.05,5.26,3.05,all P<0.05).Granulocyte colony-stimulating factor(GCSF)was once used in 5 children with GSDⅠb,all of them had completely stopped GCSF after empagliflozin treatment.The most common adverse events during empagliflozin treatment were hypoglycemia(5 children)and urinary infection(3 children).All 28 patients had no serious adverse reactions.Conclusions Empagliflozin can increase the neutrophil count of children with GSDⅠb,and had a favorable effect on symptoms such as recurrent oral ulcers,and recurrent infection.The common adverse events during empagliflozin treatment were hypoglycemia and urinary infection.