Cairns Tereza, Wanner Christoph
Department of Internal Medicine I, Division of Nephrology, University Hospital Würzburg, Würzburg, Germany.
Clin Kidney J. 2019 Feb;12(1):61-64. doi: 10.1093/ckj/sfy126. Epub 2018 Dec 24.
Despite several attempts at setting up a standardized disease severity score for Fabry disease in the past, none have been established in routine clinical practice due to the multisystem nature and complexity of this inherited enzyme deficiency disorder. In this issue, Mignani . report a large multicentre application of the FASTEX, an online tool to assess disease progress over time that offers simple data inputting and graphic illustration of disease progression or stabilization. Mignani succeeded in validating the tool in a large cohort of Fabry patients, including females and non-classical phenotypes, building on the first FASTEX introduction in 2016. We report on our own practical experience with the tool and comment on some limiting factors in its use as well as possible future prospects.
尽管过去曾多次尝试为法布里病建立标准化的疾病严重程度评分,但由于这种遗传性酶缺乏症的多系统性质和复杂性,目前尚无一种评分在常规临床实践中得以确立。在本期中,米尼亚尼等人报告了FASTEX的大规模多中心应用情况。FASTEX是一种在线工具,用于评估疾病随时间的进展,它提供简单的数据输入以及疾病进展或稳定情况的图形展示。米尼亚尼等人在2016年首次引入FASTEX的基础上,成功地在包括女性和非典型表型在内的一大群法布里病患者中验证了该工具。我们报告了我们使用该工具的实际经验,并对其使用中的一些限制因素以及可能的未来前景进行评论。