Fervenza Fernando C, Torra Roser, Warnock David G
Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA.
Biologics. 2008 Dec;2(4):823-43. doi: 10.2147/btt.s3770.
Kidney involvement with progressive loss of kidney function (Fabry nephropathy) is an important complication of Fabry disease, an X-linked lysosomal storage disorder arising from deficiency of alpha-galactosidase activity. Clinical trials have shown that enzyme replacement therapy (ERT) with recombinant human alpha-galactosidase clears globotriaosylceramide from kidney cells, and can stabilize kidney function in patients with mild to moderate Fabry nephropathy. Recent trials show that patients with more advanced Fabry nephropathy and overt proteinuria do not respond as well to ERT alone, but can benefit from anti-proteinuric therapy given in conjunction with ERT. This review focuses on the use of enzyme replacement therapy with agalsidase-alfa and agalsidase-beta in adults with Fabry nephropathy. The current results are reviewed and evaluated. The issues of dosing of enzyme replacement therapy, the use of adjunctive agents to control urinary protein excretion, and the individual factors that affect disease severity are reviewed.
肾脏受累并伴有肾功能进行性丧失（法布里肾病）是法布里病的一种重要并发症，法布里病是一种X连锁溶酶体贮积症，由α-半乳糖苷酶活性缺乏引起。临床试验表明，用重组人α-半乳糖苷酶进行酶替代疗法（ERT）可清除肾细胞中的球三糖神经酰胺，并可稳定轻度至中度法布里肾病患者的肾功能。最近的试验表明，患有更晚期法布里肾病和明显蛋白尿的患者对单独的ERT反应不佳，但可受益于与ERT联合使用的抗蛋白尿疗法。本综述重点关注α-半乳糖苷酶α和α-半乳糖苷酶β酶替代疗法在成年法布里肾病患者中的应用。对当前结果进行了综述和评估。综述了酶替代疗法的给药问题、使用辅助药物控制尿蛋白排泄以及影响疾病严重程度的个体因素。
