伊米苷酶替代治疗儿童戈谢病短期疗效分析  

Analysis of short-term efficacy of enzyme replacement therapy with Imiglucerase on children with Gaucher disease

作　　者：陆海燕[1] 王晓欢[1] 程艳丽[1] 王静[1] 索涛莉 薛慧琴[2] Lu Haiyan;Wang Xiaohuan;Cheng Yanli;Wang Jing;Suo Taoli;Xue Huiqin(Department of Hematology,Children′s Hospital of Shanxi Province,Taiyuan 030025,China;Department of Genetics,Children′s Hospital of Shanxi Province,Taiyuan 030013,China)

机构地区：[1]山西省儿童医院血液科,太原030025 [2]山西省儿童医院医学遗传科,太原030013

出　　处：《中华实用儿科临床杂志》2022年第2期134-136,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的通过对戈谢病患儿进行伊米苷酶用药监测, 对伊米苷酶替代治疗戈谢病短期疗效及生活质量改善情况进行评估。方法对2019年5月至2020年5月在山西省儿童医院血液科规律行伊米苷酶替代治疗的6例戈谢病患儿进行回顾性研究, 每3个月体检评估肝脾大小、记录骨痛等症状、监测血液学, 治疗1年时CT评估肝脾体积、磁共振成像(MRI)评估骨骼受累情况、监测体质量及身高、SF-36健康调查表评估生活质量, 并与治疗前进行比较。采用SPSS 25.0软件进行数据分析, 治疗前后比较采用配对t检验。结果 6例戈谢病患儿进行伊米苷酶替代治疗, 无严重不良反应出现。治疗3~6个月患儿肝脾均出现回缩, 血红蛋白及血小板上升。治疗1年血红蛋白较治疗前明显升高(t=4.200, P=0.008), 血小板较治疗前亦升高, 但差异无统计学意义(t=2.260, P=0.073)。治疗1年行CT评估肝脾体积, 肝体积缩小(22.10±15.28)%(t=2.725, P=0.042), 脾体积缩小(47.10±18.42)%(t=3.162, P=0.034);身高增长(6.17±2.86) cm(t=5.286, P=0.003), 体质量增加(4.08±2.01) kg(t=4.975, P=0.004)分。SF-36健康调查量表评分示生活质量明显改善[(489.35±103.99)分比(632.75±73.34), t=5.740, P=0.002]。治疗1年仍有1例间断诉骨痛, 2例MRI进展, 考虑可能与观察时间短及用量不足有关, 3例MRI与治疗前无变化。结论伊米苷酶替代治疗儿童戈谢病短期可纠正血细胞减低、肝脾大, 身高、体质量出现增长, 生活质量改善, 骨骼受累短期改善不明显。Objective To evaluate the short-term efficacy and the improvement of quality of life of enzyme replacement therapy(ERT)with Imiglucerase on children with Gaucher disease(GD)through the same time monitoring.Methods Six children diagnosed as GD who were treated by ERT with Imiglucerase in the Department of Hematology of the Children′s Hospital of Shanxi Province from May 2019 to May 2020 were recruited.Every 3 months,the sizes of the liver and spleen was palpated,the change of bone pain was recorded,and the haematological index was examed.The volumes of the liver and spleen at 1-year treatment were measured by CT.Bone involvement was examined by magnetic resonance imaging(MRI).In addition,the body weight,height,and the 36-Item Short Form Survey(SF-36)were measured and compared with pre-treatment levels.These data were analyzed statistically by SPSS 25.0 and the difference between pretherapy and post-treatment was compared by paired t test.Results Six children diagnosed as GD received ERT with Imiglucerase.No adverse events were reported.Decreased volumes of the liver and spleen,and increased hemoglobin level and platelet count were detected after 3-6 months of ERT.After 1 year of ERT,hemoglobin level significantly increased compared with pre-treatment level(t=4.200,P=0.008).Although the platelet count increased at 1-year ERT,it was comparable with pre-treatment level(t=2.260,P=0.073).The volumes of liver and spleen decreased by(22.10±15.28)%(t=2.725,P=0.042)and(47.10±18.42)%(t=3.162,P=0.034)after 1 year of ERT,respectively.During the first year of ERT,the height and weight increased(6.17±2.86)cm(t=5.286,P=0.003)and(4.08±2.01)kg(t=4.975,P=0.004),respectively.SF-36 score increased significantly from(489.35±103.99)points to(632.75±73.34)points(t=5.740,P=0.002).After 1 year of ERT,1 patient still had bone pain,and 2 cases were worse in bone MRI,which may be attributed to the short period of follow-up and insufficient dose,and another 3 had no change in bone MRI.Conclusions ERT ameliorates GD-associated anemia,o

关 键 词：戈谢病 儿童 疗效 伊米苷酶 

分 类 号：R725.9[医药卫生—儿科]