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目的:分析法布里病患儿的临床特点及使用酶替代药物治疗基本情况。方法:对2014年1月至2020年7月间浙江大学医学院附属儿童医院确诊的4例法布里病患儿的临床资料、实验室检查、基因变异及治疗进行回顾性分析。临床观察其酶替代药物阿加糖酶β治疗的效果。结果:4例患儿（男2例、女2例）年龄12.4（6.0~16.8）岁，临床表现各异，其中肢端疼痛1例、少汗2例、尿崩1例，均有左心室肥厚和尿检异常，但均未发现典型皮疹及听力异常。4例患儿均结合临床症状、体征、家族史，通过α-半乳糖苷酶A酶活性、基因检测结果明确诊断。共检出3个GLA基因错义变异 c.424T>C（p.C142R）、c.335G>A（p.R112H）和c.644A>G（p.N215S）。其中前2个变异为经典型法布里病患者变异位点，后者多表现为迟发型但亦有经典型的报道。例1使用阿加糖酶β用量为每次1 mg/kg静脉泵注，每2周用药1次。患儿诉用药后疼痛强度有缓解，少汗症状得到改善。患儿在最初的2个月输注阿加糖酶β过程中未发生严重不良反应，在输注阿加糖酶β 3次后24 h尿蛋白升至1 015.6 mg，未予处理，1周后复查降至正常。结论:法布里病在儿童期临床表现多样，需要多学科联合协同诊断并探讨酶替代治疗的时机，阿加糖酶β治疗患儿短期严重不良反应少见。“,”Objective:To analyze the clinical features and efficacy of enzyme replacement therapy in 4 children with Fabry disease.Methods:A retrospective analysis of the clinical manifestations, laboratory findings, genetic variations and treatment were conducted in 4 children with Fabry disease in Children′s Hospital of Zhejiang University School of Medicine from January 2014 to July 2020.Results:All four children (2 males, 2 females) with onset age of 12.4 (6.0-16.8) years were diagnosed based on clinical features, α-Gal A enzyme activity, genetic analysis and family history. The clinical manifestations varied in 4 children. All patients had left ventricular hypertrophy and abnormal urinalysis results, 1 case of neuropathic pain, 2 cases of hypohidrosis, 1 case of insipidus, but no angiokeratomas or hearing abnormalities were found. Three missense mutations of GLA gene were identified: c.424T>C (p.C142R), C.335G>A (p.R112H) and c.644A>G (p.N215S). The first two gene mutations were classical phenotypes, and the last one had also been reported in a classic case. In Case 1, no severe adverse events were reported in the first two months of agalsidase beta treatment. The dosage was 1 mg/kg once every 2 weeks. Symptoms of pain intensity and hypohidrosis were improved. Transiently elevated proteinuria was observed but it returned to normal after a week without any treatment.Conclusions:Clinical manifestations of Fabry disease varied in childhood. Multidisciplinary collaboration is required for its early diagnosis and treatment. Severe adverse events are rare in children with short-term therapy of agalsidase beta.