Belcolle Hospital, Nephrology and Dialysis, Strada Sammartinese snc, IT-01100 Viterbo, Italy.
Clin J Am Soc Nephrol. 2012 Jan;7(1):60-9. doi: 10.2215/CJN.03130411.
Fabry disease is a rare X-linked disease with multisystemic manifestations. This study investigated the effectiveness of long-term enzyme replacement therapy with agalsidase alfa in Fabry nephropathy treatment.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: In this observational study, data on patients receiving agalsidase alfa (0.2 mg/kg every other week) were extracted from the Fabry Outcome Survey, an international registry of patients with Fabry disease. Serum creatinine and estimated GFR (eGFR) at baseline and after ≥5 years of treatment were assessed; 24-hour urinary protein excretion and BP measurements were also reviewed. The eGFR was calculated using the Chronic Kidney Disease Epidemiology Collaboration formula. Patients with an eGFR <30 ml/min per 1.73 m(2) were excluded.
Renal function was assessed in 208 patients (mean enzyme replacement therapy, 7.4 years; range, 5.0-11.2 years). Mean yearly change in eGFR was -2.2 ml/min per 1.73 m(2) in men and -0.7 ml/min per 1.73 m(2) in women (95% confidence limits, -2.8; -1.7 and -1.4; 0.0, respectively). Patients with 24-hour protein excretion >1 g/24 h had poorer renal function at baseline and follow-up compared with patients with protein excretion of 500-1000 mg/24 h or with proteinuria <500 mg/24 h. Renal function was worse in patients with baseline arterial hypertension, and there was a more rapid yearly decline compared with normotensive patients.
This study suggests that long-term agalsidase alfa therapy is able to stabilize the rate of Fabry nephropathy progression in women and is associated with a mild to moderate decline of renal function in men.
法布瑞病是一种罕见的伴多系统表现的 X 连锁疾病。本研究旨在探究阿加糖酶α长期治疗法布瑞肾病的效果。
设计、地点、参与者和测量：本观察性研究从法布瑞病国际患者登记处——法布瑞结局调查中提取了接受阿加糖酶α（0.2 mg/kg，每两周一次）治疗的患者的数据。评估了基线时及治疗≥5 年后的血清肌酐和估算肾小球滤过率（eGFR）；还回顾了 24 小时尿蛋白排泄量和血压测量结果。采用慢性肾脏病流行病学协作公式计算 eGFR。排除 eGFR<30 ml/min/1.73 m²的患者。
共评估了 208 例患者的肾功能（平均酶替代治疗时间为 7.4 年，范围为 5.0-11.2 年）。男性 eGFR 每年的平均变化为-2.2 ml/min/1.73 m²，女性为-0.7 ml/min/1.73 m²（95%置信区间，分别为-2.8；-1.7 至-1.4；分别为 P<0.001）。与 24 小时尿蛋白排泄量为 500-1000 mg/24 h 或<500 mg/24 h 的患者相比，24 小时尿蛋白排泄量>1 g/24 h 的患者在基线和随访时的肾功能更差。基线时合并高血压的患者肾功能更差，且与血压正常的患者相比，其 eGFR 每年下降速度更快。
本研究表明，阿加糖酶α长期治疗能够稳定女性法布瑞肾病的进展速度，与男性肾功能的轻度至中度下降相关。
