目标:法布里病,X连锁溶酶体贮积症,导致球形神经酰胺在整个身体细胞中的进行性积累。特征性多器官表现包括肾功能不全(法布里肾病)和相关的尿路并发症。自2001年以来,酶替代疗法(ERT)已经可用,但当代现实世界的数据缺乏关于法布里肾病风险和治疗结果。
方法:这项回顾性队列研究分析了来自TriNetX研究数据库的10,637名法布里病患者的电子病历数据。在过去的二十年中,对肾脏和泌尿道的结果进行了评估。2000-2010年和2011-2020年。评估的结果包括慢性肾脏病(CKD),尿路感染,尿失禁,阻塞,肾功能不全,和终末期肾病(ESRD)。
结果:在2000-2010年和2011-2020年期间,4-5期CKD的患病率几乎翻了一番,而ESRD的患病率上升了4倍以上。在肾脏和泌尿系统并发症中,发病率显示出相似的明显升高。女性和黑人患者的肾脏和泌尿道发病率不成比例地上升。
结论:这项大型队列研究显示,在过去的二十年中,法布里肾病和相关的泌尿系统并发症明显增加,与ERT可用性降低发病率的预期相矛盾。调查结果强调需要优化筛查,治疗策略,监测做法,并解决差异,以遏制不断上升的疾病负担并改善患者预后。
OBJECTIVE: Fabry disease, an X-linked lysosomal storage disorder, causes progressive
globotriaosylceramide accumulation in cells throughout the body. Characteristic multiorgan manifestations include renal dysfunction (Fabry nephropathy) and associated urinary tract complications. Enzyme replacement therapy (ERT) has been available since 2001, but contemporary real-world data are lacking regarding Fabry nephropathy risks and treatment outcomes.
METHODS: This retrospective cohort study analyzed electronic medical records data for 10,637 Fabry disease patients from the TriNetX research database. Kidney and urinary tract outcomes were evaluated over two decades, 2000-2010 and 2011-2020. Outcomes assessed included chronic kidney disease (CKD), urinary tract infections, urinary incontinence, obstruction, renal insufficiency, and end-stage renal disease (ESRD).
RESULTS: The prevalence of stage 4-5 CKD nearly doubled between 2000-2010 and 2011-2020, while ESRD prevalence rose over 4-fold. Incidence rates showed similar marked elevations across renal and urologic complications. Females and Black patients experienced disproportionate escalations in kidney and urinary tract morbidity.
CONCLUSIONS: This large cohort study revealed significantly increased Fabry nephropathy and associated urologic complications over the past two decades, contradicting expectations of reduced morbidity with ERT availability. The findings highlight needs to optimize screening, treatment strategies, monitoring practices, and address disparities to curb rising disease burden and improve patient outcomes.