Department of Nephrology and Dialysis, Infermi Hospital, Rimini, Italy.
Clin J Am Soc Nephrol. 2010 Feb;5(2):379-85. doi: 10.2215/CJN.05570809. Epub 2010 Jan 7.
ESRD is a major cause of morbidity and premature mortality in Fabry disease, particularly in classically affected males. The decline of renal function in Fabry nephropathy is adversely affected by male gender, advanced chronic kidney disease (CKD), and severe proteinuria. The diagnosis of Fabry nephropathy may be missed if not specifically addressed in progressive CKD and patients have been first identified in screening programs of dialysis patients. Fabry patients have worse 3-year survival rates on dialysis as compared with nondiabetic controls. The 5-year survival rate of transplanted Fabry patients is also lower than that of controls. However, because Fabry nephropathy does not recur in the allograft and transplanted Fabry patients appear to have better overall outcomes than those maintained on dialysis, kidney transplantation should be recommended as a first choice in renal replacement therapy (RRT) for Fabry disease. Appropriately designed and powered studies are not available to answer the question whether enzyme replacement therapy (ERT) influences outcomes, the course of cardiomyopathy, events, or survival in Fabry patients on RRT. The authors are not aware of compelling indications for ERT in RRT patients because progression of cardiomyopathy was documented during ERT. Whether the excess mortality risk of Fabry patients on RRT can be prevented by ERT is unknown. Despite observational reports of symptomatic improvement, the available evidence supporting ERT for such patients is not compelling enough. To clarify this issue, studies are needed to test the effectiveness of agalsidases in preventing cardiac and cerebrovascular complications in Fabry patients with ESRD.
终末期肾脏疾病（ESRD）是法布里病发病和死亡的主要原因，尤其在经典型男性患者中。法布里肾病患者的肾功能下降受到多种因素的不利影响，包括男性性别、晚期慢性肾脏病（CKD）和严重蛋白尿。如果在进行性 CKD 中未专门解决这个问题，且患者首先在透析患者的筛查计划中被识别，那么可能会漏诊法布里肾病。与非糖尿病对照组相比，法布里病患者在透析时的 3 年生存率更差。接受移植的法布里病患者的 5 年生存率也低于对照组。然而，由于法布里肾病在移植物中不会复发，并且接受移植的法布里病患者的总体预后似乎优于维持透析的患者，因此应推荐肾移植作为法布里病肾替代治疗（RRT）的首选方法。目前尚无适当设计和有力的研究来回答酶替代疗法（ERT）是否会影响接受 RRT 的法布里病患者的结局、心肌病的进程、事件或生存率的问题。作者不知道在接受 RRT 的患者中使用 ERT 的明确适应证，因为在 ERT 期间已记录到心肌病的进展。接受 RRT 的法布里病患者的超额死亡风险是否可以通过 ERT 来预防尚不清楚。尽管有关于症状改善的观察报告，但支持此类患者使用 ERT 的现有证据还不够有力。为了澄清这个问题，需要进行研究以测试阿加糖酶在预防 ESRD 法布里病患者心脏和脑血管并发症方面的有效性。
