Fabry disease: overall effects of agalsidase alfa treatment
Fabry disease: overall effects of agalsidase alfa treatment
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DOI：
10.1111/j.1365-2362.2004.01424.x
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发表时间：
2004-12-01
影响因子：
5.5
通讯作者：
Mehta, A
中科院分区：
文献类型：
--
作者：
Beck, M;Ricci, R;Mehta, A
背景法布里病是一种罕见的X-连锁疾病，由溶酶体酶α-半乳糖苷酶A活性缺陷引起。底物神经酰胺三己糖苷在全身细胞中的逐渐积累导致主要器官衰竭和过早死亡。法布里结局调查（FOS）是一个欧洲结局数据库，旨在收集这种鲜为人知的疾病的自然史数据，并监测半乳糖苷酶α酶替代疗法（ERT）的长期疗效和安全性。本文首次分析了FOS数据库中ERT对肾功能、心脏大小、疼痛和生活质量的影响。设计ERT联合半乳糖苷酶α治疗1年和2年对肾功能的影响（通过估计肾小球滤过率评估）、心脏大小（通过超声心动图评估），疼痛（通过简明疼痛量表评估）和生活质量在545名患者的队列中分析（通过欧洲生活质量问卷EQ-5D评估），其中314名患者正在接受治疗（188例至少治疗12个月，92例至少治疗24个月;平均治疗时间为17个月;最长持续时间，56个月）。结果用半乳糖苷酶α治疗稳定了基线时肾功能轻度或中度恶化的患者的肾功能，在基线时心脏增大的患者中，左心室尺寸减小，疼痛评分和生活质量改善。这些改善是相似的半合子男性和杂合子女性Fabrydisease.Conclusions酶替代疗法与半乳糖苷酶α导致显着的临床效益与法布里病患者，治疗很可能会改变这种疾病的自然史。
Background Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. The Fabry Outcome Survey (FOS) is a European outcomes database which was established to collect data on the natural history of this little-known disease and to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. This paper presents the first analysis of the FOS database on the effects of ERT on renal function, heart size, pain and quality of life.Design The effects of 1 and 2 years of ERT with agalsidase alfa on renal function (assessed by estimated glomerular filtration rate), heart size (assessed by echocardiography), pain (assessed by the Brief Pain Inventory) and quality of life (assessed by the European Quality of Life Questionnaire EQ-5D) were analyzed in a cohort of 545 patients, 314 of whom were receiving treatment (188 for at least 12 months and 92 for at least 24 months; mean duration of treatment, 17 months; maximum duration, 56 months).Results Treatment with agalsidase alfa stabilized renal function in patients with a mild or moderate deterioration in renal function at baseline, reduced left ventricular size in patients who had an enlarged heart at baseline, and improved pain scores and quality of life. These improvements were similar in hemizygous men and heterozygous women with Fabry disease.Conclusions Enzyme replacement therapy with agalsidase alfa leads to significant clinical benefits in patients with Fabry disease, and treatment is likely to alter the natural history of this disorder.