Department of Internal Medicine, University of Alabama, 1530 3rd Avenue South, Tuscaloosa, AL 34294, USA.
Nephron Clin Pract. 2011;118(1):c43-8. doi: 10.1159/000320903. Epub 2010 Nov 11.
BACKGROUND/AIMS: Fabry disease is an X-linked disorder leading to abnormal accumulation of glycosphingolipids with multisystem involvement, including cardiac, renal, dermatologic and neurologic manifestations. Fabry nephropathy, specifically proteinuria and progressive chronic kidney disease, have taken center stage over the past decade, defining disease outcomes as well as mortality associated with Fabry disease. Systemic blood pressure among patients with Fabry disease is relatively low, compared to other forms of proteinuric chronic kidney disease.
This review is based on a systematic survey of recent publications that describe the diagnosis and treatment of Fabry nephropathy in adults.
A high percentage of patients with Fabry disease have been shown to have proteinuria, and a small but significant percentage of Fabry patients have overt hypertension. Recent efforts have focused on the use of angiotensin-converting enzyme inhibitors and angiotensin receptor blockers (ACEIs/ARBs) in addition to enzyme replacement therapy (ERT) for treatment of Fabry nephropathy. The proven beneficial effects of ACEI/ARBs for more common forms of proteinuric kidney disease have been extrapolated to the treatment of Fabry nephropathy. The overall treatment goal with ACEIs/ARBs, in combination with ERT, is reduction of urinary protein excretion to less than 500 mg/day, and stabilization of the decline of kidney function to -1 ml/min/1.73 m(2)/year. ERT alone, in the absence of ACEIs/ARBs does not decrease proteinuria in Fabry patients. We present the prevalence of proteinuria, kidney disease and hypertension in Fabry disease and discuss treatment goals for the treatment of this unusual form of proteinuric kidney disease.
There are some practical challenges to the use of standard antiproteinuric therapy in Fabry disease that need to be addressed to optimize patient outcome, with the expectation that kidney function can be preserved with the combination of ERT and ACEI/ARB therapy.
背景/目的：法布瑞病是一种 X 连锁疾病，导致糖脂的异常堆积，涉及多系统，包括心脏、肾脏、皮肤和神经系统表现。过去十年，法布瑞肾病，特别是蛋白尿和进行性慢性肾脏病，已成为焦点，定义了法布瑞病的疾病结局和与法布瑞病相关的死亡率。与其他形式的蛋白尿性慢性肾脏病相比，法布瑞病患者的全身血压相对较低。
本综述基于对描述成人法布瑞肾病的诊断和治疗的近期出版物的系统调查。
大量法布瑞病患者表现为蛋白尿，一小部分但有显著意义的法布瑞病患者存在显性高血压。最近的努力集中在除酶替代疗法（ERT）外，还使用血管紧张素转换酶抑制剂和血管紧张素受体阻滞剂（ACEIs/ARBs）治疗法布瑞肾病。ACEI/ARBs 对更常见的蛋白尿性肾脏病的已证实有益作用已被推断用于治疗法布瑞肾病。ACEIs/ARBs 联合 ERT 的总体治疗目标是将尿蛋白排泄量减少到每天 500mg 以下，并稳定肾功能下降速度至每年 -1ml/min/1.73m2。单独使用 ERT 并不能减少法布瑞病患者的蛋白尿。我们介绍了法布瑞病中蛋白尿、肾脏病和高血压的患病率，并讨论了治疗这种异常形式的蛋白尿性肾脏病的治疗目标。
在法布瑞病中使用标准的抗蛋白尿治疗存在一些实际挑战，需要解决这些挑战，以优化患者的治疗效果，期望 ERT 和 ACEI/ARB 联合治疗可以保留肾功能。
