The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa

被引：1

作者：

Mac Lochlainn, Dylan J. ^{[1
]}

McKechnie, Douglas G. J. ^{[1
]}

Mehta, Atul B. ^{[2
]}

Hughes, Derralynn A. ^{[2
]}

机构：

[1] UCL, Sch Med, London, England

[2] UCL, Lysosomal Storage Disorders Unit, Royal Free London NHS Fdn Trust, London, England

来源：

MOLECULAR GENETICS AND METABOLISM | 2018年 / 123卷 / 02期

关键词：

Fabry disease; Alpha galactosidase A; Enzyme replacement therapy; Agalsidase alfa; Long-term effectiveness; SEVERITY SCORE; INDEX;

D O I：

10.1016/j.ymgme.2017.10.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Fabry disease is a rare X-linked lysosomal storage disorder in which there is deficiency of alpha galactosidase A. Enzyme replacement therapy (ERT) is commercially available and has been demonstrated to improve cardiac and renal outcomes. Predictive scores, such as the Fabry International Prognostic Index (FIPI), have been developed to stratify disease severity; however, these have not been validated to predict outcomes in patients receiving ERT. We show that the FIPI score at baseline can predict outcomes in a group of patients on long-term ERT.

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收藏

页码：154 / 158

页数：5

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