Torra R, Algaba F, Ars E, Santin S, Fernández-Llama P, Ballarin J
Nephrology Department, Molecular Biology Laboratory, Puigvert Foundation, Barcelona, Spain.
Clin Nephrol. 2008 Jun;69(6):445-9. doi: 10.5414/cnp69445.
Fabry disease is an X-linked recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal enzyme, alpha-galactosidase A. Enzyme replacement therapy (ERT) for this disorder has been available in Europe since 2001. However, its effect on advanced renal failure remains controversial. We report the case of a patient whose decline in renal function was reduced by the administration of ERT (agalsidase-alpha). This reduction was more pronounced after doubling the dose of the enzyme. The rate of deterioration of eGFR went from 6.3 ml/min/year prior to the start of ERT (0.2 mg/kg) to 2 ml/min/year (0.4 mg/kg). To our knowledge, this is the first reported case of a patient with moderately impaired renal function treated with high doses of ERT and follow-up of 6 years. The data shown here suggest that ERT may have a very positive impact on renal function even in advanced stages. The role of proteinuria and its control seem to have a clear responsibility for this favorable outcome.
法布里病是一种X连锁隐性遗传性鞘糖脂代谢紊乱疾病，由溶酶体酶α-半乳糖苷酶A活性缺乏引起。自2001年起，欧洲已可采用酶替代疗法（ERT）治疗该疾病。然而，其对晚期肾衰竭的疗效仍存在争议。我们报告了一例患者，通过给予ERT（阿加糖酶α），其肾功能下降得到缓解。在酶剂量加倍后，这种缓解更为明显。估算肾小球滤过率（eGFR）的恶化速率从ERT开始前（0.2mg/kg）的6.3ml/（min·年）降至（0.4mg/kg）时的2ml/（min·年）。据我们所知，这是首例报道的使用高剂量ERT治疗且随访6年的中度肾功能受损患者。此处所示数据表明，即使在疾病晚期，ERT对肾功能可能也有非常积极的影响。蛋白尿及其控制似乎对这一良好结果起着明确作用。
