Blood Pressure, Proteinuria and Nephropathy in Fabry Disease
Blood Pressure, Proteinuria and Nephropathy in Fabry Disease
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DOI：
10.1159/000320903
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发表时间：
2011-01-01
影响因子：
--
通讯作者：
Warnock, David G.
中科院分区：
文献类型：
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作者：
Jain, Gaurav;Warnock, David G.
背景/目标：法布里病是一种X连锁疾病，导致鞘糖脂异常积聚，累及多系统，包括心脏、肾脏、皮肤和神经系统表现。法布里病肾病，特别是蛋白尿和进行性慢性肾病，在过去十年中占据了中心地位，定义了与法布里病相关的疾病结局以及死亡率。与其他形式的蛋白尿性慢性肾病相比，法布里病患者的全身血压相对较低。方法：本综述基于对最近发表的描述成人法布里病肾病诊断和治疗的文献的系统调查。结果如下：高比例的法布里病患者已被证明有蛋白尿，和一个小的，但显着比例的法布里病患者有明显的高血压。最近的努力集中在使用血管紧张素转换酶抑制剂和血管紧张素受体阻滞剂（ACEI/ARB），除了酶替代疗法（ERT）治疗法布里病肾病。ACEI/ARB对更常见形式的蛋白尿肾病的已证实的有益作用已外推至法布里病肾病的治疗。ACEI/ARB联合ERT的总体治疗目标是将尿蛋白排泄量降至500 mg/天以下，并将肾功能下降稳定至-1 ml/min/1.73 m2/年。在不存在ACEI/ARB的情况下，ERT单独治疗不能减少法布里病患者的蛋白尿。我们介绍了法布里病中蛋白尿、肾脏疾病和高血压的患病率，并讨论了这种不寻常的蛋白尿性肾脏疾病的治疗目标。结论：在法布里病中使用标准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结局，期望ERT和ACEI/ARB联合治疗可以保护肾功能。版权所有（C）2010 S. Karger AG，巴塞尔
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. Methods: This review is based on a systematic survey of recent publications that describe the diagnosis and treatment of Fabry nephropathy in adults. Results: 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. Conclusion: 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. Copyright (C) 2010 S. Karger AG, Basel