Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
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DOI：
10.1371/journal.pone.0182379
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发表时间：
2017
期刊：
影响因子：
3.7
通讯作者：
Hollak CEM
中科院分区：
文献类型：
--
作者：
Arends M;Biegstraaten M;Hughes DA;Mehta A;Elliott PM;Oder D;Watkinson OT;Vaz FM;van Kuilenburg ABP;Wanner C;Hollak CEM
尽管进行了酶替代治疗，但法布里病患者的病情仍在恶化。需要确定预测疾病进展的因素，以完善开始和停止酶替代治疗的指南。为了研究潜在的生化和临床预后因素与病程(临床事件、心脏和肾脏疾病的进展)的关系，我们对来自三个国际卓越中心的293名接受治疗的患者进行了回顾性评估。正如预期的那样，年龄、性别和表型是事件发生率的重要预测因素。酶替代治疗前的临床事件、心脏重量和基线时的EGFR预示着事件发生率的增加。EGFR是最重要的预测因子：与EGFR>；90的患者相比，EGFR<；90ml/min/1.73m2的风险比从2增加到EGFR&30的4。此外，与EGFR基线为60毫升/分钟/1.73平方米的男性相比，患有经典型疾病且EGFR基线为60毫升/分钟/1.73平方米的男性的年下降速度更快(-2.0毫升/分钟/1.73平方米)。蛋白尿是EGFR下降的另一个独立危险因素。基线时心脏质量的增加与治疗期间心脏质量的最强劲下降有关，而心脏纤维化的存在预示着心脏质量的更大增加(3.36克/平方米/年)。在其他心血管危险因素中，高血压显著预测临床事件的风险。总而言之，除了年龄、男性和典型表型的增加，在接受酶替代治疗时，肾功能、蛋白尿以及较小程度的心脏纤维化和高血压都预示着疾病进展更快。
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. To study the association of potential biochemical and clinical prognostic factors with the disease course (clinical events, progression of cardiac and renal disease) we retrospectively evaluated 293 treated patients from three international centers of excellence. As expected, age, sex and phenotype were important predictors of event rate. Clinical events before enzyme replacement therapy, cardiac mass and eGFR at baseline predicted an increased event rate. eGFR was the most important predictor: hazard ratios increased from 2 at eGFR <90 ml/min/1.73m2 to 4 at eGFR <30, compared to patients with an eGFR >90. In addition, men with classical disease and a baseline eGFR <60 ml/min/1.73m2 had a faster yearly decline (-2.0 ml/min/1.73m2) than those with a baseline eGFR of >60. Proteinuria was a further independent risk factor for decline in eGFR. Increased cardiac mass at baseline was associated with the most robust decrease in cardiac mass during treatment, while presence of cardiac fibrosis predicted a stronger increase in cardiac mass (3.36 gram/m2/year). Of other cardiovascular risk factors, hypertension significantly predicted the risk for clinical events. In conclusion, besides increasing age, male sex and classical phenotype, faster disease progression while on enzyme replacement therapy is predicted by renal function, proteinuria and to a lesser extent cardiac fibrosis and hypertension.
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影响因子：
3.7
作者：
Krämer J;Bijnens B;Störk S;Ritter CO;Liu D;Ertl G;Wanner C;Weidemann F
通讯作者：
Weidemann F
影响因子：
3.8
作者：
Arends, Maarten;Linthorst, Gabor E.;Biegstraaten, Marieke
通讯作者：
Biegstraaten, Marieke
影响因子：
1.4
作者：
Jardim, Laura B.;Aesse, Flávio;Giugliani, Roberto
通讯作者：
Giugliani, Roberto
DOI：
10.1073/pnas.0712309105
发表时间：
2008-02-26
影响因子：
11.1
作者：
Aerts, Johannes M.;Groener, Johanna E.;Poorthuis, Ben J.
通讯作者：
Poorthuis, Ben J.
影响因子：
13.6
作者：
Germain, Dominique P.;Waldek, Stephen;Guffon, Nathalie
通讯作者：
Guffon, Nathalie