Schwarting A, Dehout F, Feriozzi S, Beck M, Mehta A, Sunder-Plassmann G
Department of Nephrology, University of Mainz, Mainz, Germany.
Clin Nephrol. 2006 Aug;66(2):77-84.
Fabry disease is a rare lysosomal storage disorder caused by deficient activity of alpha-galactosidase A, resulting in progressive cellular accumulation of glycolipids, which may ultimately result in endstage renal disease. We examined the effects of enzyme replacement therapy (ERT) with Agalsidase-alpha on renal function using data from a large international database, the Fabry Outcome Survey (FOS).
This analysis was based on 1,040 serum creatinine measurements in 201 patients with Fabry disease, aged 20 - 60 years, with serum creatinine concentrations of less than 2 mg/dl and duration of ERT of up to 4.7 years. Both pretreatment and treatment data were used to examine independent predictors of changes in serum creatinine. In a second approach longitudinal serum creatinine measurements from 1 year before treatment, at baseline and 1 and 2 years after the start of treatment were analyzed in 20 patients with chronic kidney disease (CKD) Stage 2 and 3.
We found an independent negative association between serum creatinine and time on Agalsidase-alpha treatment (p < 0.05). Renal function declined significantly (p < 0.05) in the year before treatment. After 1 year of treatment, however, the decline in estimated glomerular filtration rate had been halted, and renal function was preserved for up to 2 years.
In conclusion, ERT with Agalsidase-alpha is associated with decrease of serum creatinine and may prevent the deterioration of renal function in patients with Fabry disease.
法布里病是一种罕见的溶酶体贮积症，由α-半乳糖苷酶A活性缺乏引起，导致糖脂在细胞内进行性蓄积，最终可能导致终末期肾病。我们利用一个大型国际数据库——法布里病结局调查（FOS）中的数据，研究了阿加糖酶α酶替代疗法（ERT）对肾功能的影响。
该分析基于201例年龄在20至60岁之间、血清肌酐浓度低于2mg/dl且ERT持续时间长达4.7年的法布里病患者的1040次血清肌酐测量值。预处理数据和治疗数据均用于检查血清肌酐变化的独立预测因素。在第二种方法中，对20例慢性肾脏病（CKD）2期和3期患者治疗前1年、基线时以及治疗开始后1年和2年的纵向血清肌酐测量值进行了分析。
我们发现血清肌酐与接受阿加糖酶α治疗的时间之间存在独立负相关（p<0.05）。治疗前一年肾功能显著下降（p<0.05）。然而，治疗1年后，估计肾小球滤过率的下降已停止，并且肾功能维持了长达2年。
总之，阿加糖酶αERT与血清肌酐降低相关，并且可能预防法布里病患者肾功能恶化。
