论文部分内容阅读
法布莱病是一种X-连锁的糖鞘酯代谢异常,是由于溶酶体α-半乳糖苷酶A缺乏造成的,从而导致糖鞘酯在大部分内脏组织和体液内的溶酶体内不断沉积。继在成人身上所进行的临床试验获得成功后,最近两种α-半乳糖苷酶的重组酶制剂用于治疗该病在欧洲获得了认可,同时开始应用于儿童法布莱病的治疗。笔者观察了3例接受酶替代治疗(agalsidase beta,Fab- razyme,1 mg/kg)2年的患儿临床表现及血浆和尿液的酰基鞘鞍醇三己糖浓度的变化。其中1例患儿在接受治疗后所有的临床和生化指标均得到了迅速的改善,而且疗效持续。另外2例患儿是兄弟,在接受治疗1年后其临床指标没有明显改善,而其血浆和尿液的酰基鞘鞍醇三己糖浓度虽较治疗前有所降低,但仍显著高于正常值。因为没有阻断或中和抗体的迹象,故在治疗74周时将其剂量上调至2 mg/kg。治疗2年后其疼痛指数有所改善,但并不伴有血浆和尿液的酰基鞘鞍醇三己糖浓度的降低。结论:监测血浆和尿液的酰基鞘鞍醇三己糖浓度并不能准确反映所有接受酶替代治疗患者治疗的进展情况。本文报道的两兄弟,其主观的临床改善就较客观的生化指标更能反映出疗效。
Fabry’s disease is an X-linked metabolic abnormality of glycosphingolipids due to a deficiency of lysosomal α-galactosidase A, leading to the involvement of glycosphingolysin in the lysosomes of most visceral tissues and body fluids Constantly deposited. Following the success of clinical trials in adults, two recombinant enzyme preparations of α-galactosidase have recently gained acceptance in Europe for the treatment of this disease and are being used in the treatment of children with Fabry disease. The authors observed the clinical manifestations and the changes of acyl-spermstem hexose in plasma and urine of 3 children who received enzyme-replacement therapy (Fab-razyme, 1 mg / kg) for 2 years. One case of children after treatment received all the clinical and biochemical indicators have been rapidly improved, and the effect continued. The other 2 patients were brothers and did not show any significant improvement in their clinical outcome after 1 year of treatment. The concentrations of hexose and hexose in plasma and urine of the two groups were significantly lower than those before treatment value. Because there was no evidence of blocking or neutralizing antibodies, the dose was raised to 2 mg / kg at 74 weeks of treatment. The pain index improved after 2 years of treatment, but was not accompanied by a decrease in the concentration of acylsapentanol trihexose in plasma and urine. CONCLUSIONS: Monitoring the concentrations of hexose and hexose in plasma and urine does not accurately reflect the progress of treatment in all patients receiving enzyme replacement therapy. The two brothers reported in this paper, the subjective clinical improvement more objective biochemical indicators reflect the effect.