Objective: To analyze the efficacy of enzyme replacement therapy and anti-drug antibody production in children with Fabry disease. Methods: The clinical data of 7 children with Fabry disease treated with enzyme replacement therapy for more than 1 year at Children's Hospital of Zhejiang University School of Medicine from July 2021 to June 2024 were retrospectively analyzed. The basic information and the changes of related clinical indicators before and after treatment were collected. Paired sample t test was used to compare renal function, left heart mass index, pain score and other related indexes before and after treatment. The anti-drug antibodies were detected by enzyme-linked immunosorbent assay. Results: A total of 6 boys and 1 girl were included. The age of diagnosis was (12.2±1.8) years. After 1 year of enzyme replacement therapy, the abnormal substrate globotriaosylsphingosine and brief pain inventory scores of all children were significantly lower than those before treatment ((16±11) vs. (63±42) μg/L, (22±19) vs. (45±29) points, t=3.88, 3.43, both P<0.05). There were no significant differences in glomerular filtration rate, urinary microalbumin to creatinine and left heart mass index before and after treatment ((124±35) vs. (136±26) ml/(min·1.73 m2), (9.3±8.3) vs. (3.8±2.5) mg/g, (38±9) vs. (33±6) g/m2.7, t=1.33, 1.74, 1.19, all P>0.05). Patients 4, 5 and 6 developed anti-drug antibodies at 1 month, 4 months and 1 month after medication, respectively. Patient 4 had persistently high anti-drug antibody titers (absorbance 3.65-3.73) accompanied by urticaria, elevated globotriaosylsphingosine and worsening clinical symptoms. Conclusions: The enzyme replacement therapy can effectively improve the clinical symptoms and reduce the level of globotriaosylsphingosine in children with Fabry disease. The anti-drug antibody is common in patients after long-term enzyme replacement therapy and may diminish the efficacy, which needs dynamic monitoring.
目的： 分析法布雷病患儿酶替代治疗及抗药抗体生成情况。 方法： 回顾性病例总结。收集2021年7月至2024年6月在浙江大学医学院附属儿童医院酶替代治疗1年以上的7例法布雷病患儿的基本信息，治疗前后相关化验、检查等临床资料。采用配对样本t检验比较治疗前后肾小球滤过率、左心质量指数、疼痛强度评分等相关指标的差异。通过酶联免疫吸附法检测抗药抗体。 结果： 7例患儿中男6例、女1例，确诊年龄（12.2±1.8）岁。在酶替代治疗1年时，7例患儿的异常底物脱乙酰基三己糖酰基鞘酯醇和疼痛强度评分均较治疗前有明显降低［（16±11）比（63±42）μg/L，（22±19）比（45±29）分，t=3.88、3.43，均P<0.05］。肾小球滤过率、尿微量白蛋白/尿肌酐和左心质量指数治疗前后差异均无统计学意义［（124±35）比（136±26）ml/（min·1.73 m2），（9.3±8.3）比（3.8±2.5）mg/g，（38±9）比（33±6）g/m2.7，t=1.33、1.74、1.19，均P>0.05］。例4、5、6分别在用药后1、4、1个月时出现抗药抗体。例4患儿抗药抗体滴度持续高值（吸光度 3.65~3.73）且伴随荨麻疹、脱乙酰基三己糖酰基鞘酯醇水平上升和手足疼痛症状加重。 结论： 酶替代治疗可有效改善法布雷病患儿临床症状并显著降低脱乙酰基三己糖酰基鞘酯醇水平。抗药抗体的出现在长期酶替代治疗中较常见并可能影响疗效，需要临床关注和动态监测。.