Mignani Renzo, Pieruzzi Federico, Berri Francesco, Burlina Alessandro, Chinea Benito, Gallieni Maurizio, Pieroni Maurizio, Salviati Alessandro, Spada Marco
Nephrology and Dialysis Department , Infermi Hospital , Viale Settembrini, 2 - 47900 Rimini , Italy.
Department of Health Sciences, University of Milano-Bicocca and Nephrology Unit , San Gerardo Hospital , Via Giambattista Pergolesi, 33 - 20052 Monza , Italy.
Clin Kidney J. 2016 Oct;9(5):739-47. doi: 10.1093/ckj/sfw082. Epub 2016 Sep 9.
Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R (2) = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients.
两种疾病严重程度评分系统，即美因茨严重程度评分指数（MSSI）和法布里病严重程度评分系统（DS3），已被验证可用于量化法布里病的疾病负担。我们旨在开发一种动态数学模型[FASTEX（法布里病稳定指数）]来评估临床稳定性。一个法布里病多学科专家小组首先基于三个领域定义了一种新的严重程度评分[原始评分（RS）]，每个领域包含少量项目（神经系统领域：疼痛、脑血管事件；肾脏领域：蛋白尿、肾小球滤过率；心脏领域：超声心动图参数、心电图参数和纽约心脏协会分级），并评估随时间的临床稳定性。该RS在28例经典型法布里病患者（15例男性，13例女性）中进行了测试。新建立的RS与加权评分（WS）、DS3和MSSI之间存在良好的统计学相关性（R²分别为0.914、0.949、0.910和0.938）。为了进一步完善RS，计算了一个以百分比值表示的WS。这是基于每个领域内各项目的相对临床意义，专家小组就特定器官系统临床损害的不同权重归属达成一致。为了测试临床负担随时间的变化，1年后重复进行RS评估。专家小组商定，将与基线相比变化20%作为临床WS的临界值来定义临床稳定性。FASTEX模型在所有患者中均显示出与临床评估以及随时间的临床变化具有良好的相关性。
