Schiffmann Raphael, Warnock David G, Banikazemi Maryam, Bultas Jan, Linthorst Gabor E, Packman Seymour, Sorensen Sven Asger, Wilcox William R, Desnick Robert J
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD, USA.
Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. doi: 10.1093/ndt/gfp031. Epub 2009 Feb 13.
In Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac and cerebrovascular events has not been well characterized.
We conducted a retrospective chart review of 279 affected males and 168 females from 27 sites (USA, Canada, Europe). The pre-defined study endpoints included progression of renal, cardiac and cerebrovascular involvement and/or death before the initiation of enzyme replacement therapy.
The mean rate of estimated glomerular filtration rate (eGFR) decline for patients was -2.93 for males, and -1.02 ml/min/1.73 m(2)/year for females. Prevalence and severity of proteinuria, baseline eGFR <60 ml/min/1.73 m(2) and hypertension were associated with more rapid loss of eGFR. Advanced Fabry nephropathy was more prevalent and occurred earlier among males than females. Cardiac events (mainly arrhythmias), strokes and transient ischaemic attacks occurred in 49, 11, 6% of males, and in 35, 8, 4% of females, respectively. The mean age at death for 20 male patients was 49.9 years.
Baseline proteinuria, reduced baseline eGFR, hypertension and male gender were associated with more rapid progression of Fabry nephropathy. The eGFR progression rate may increase with advancing nephropathy, and may differ between subgroups of patients with Fabry disease.
在法布里病中，进行性糖脂蓄积会导致器官损害和过早死亡，但肾脏、心脏和脑血管事件的发生率尚未得到充分描述。
我们对来自27个地点（美国、加拿大、欧洲）的279名受影响男性和168名女性进行了回顾性病历审查。预先定义的研究终点包括在开始酶替代治疗之前肾脏、心脏和脑血管受累的进展和/或死亡。
患者的估计肾小球滤过率（eGFR）平均下降率男性为-2.93，女性为-1.02 ml/min/1.73 m²/年。蛋白尿的患病率和严重程度、基线eGFR<60 ml/min/1.73 m²以及高血压与eGFR更快的下降相关。晚期法布里肾病在男性中比女性更普遍且出现更早。心脏事件（主要是心律失常）、中风和短暂性脑缺血发作分别发生在49%的男性、35%的女性中，11%的男性、8%的女性中，以及6%的男性、4%的女性中。20名男性患者的平均死亡年龄为49.9岁。
基线蛋白尿、基线eGFR降低、高血压和男性性别与法布里肾病进展更快相关。eGFR进展率可能随着肾病进展而增加，并且在法布里病患者亚组之间可能有所不同。
