Suarez Maria L Gonzalez, Thongprayoon Charat, Hansrivijit Panupong, Medaura Juan, Vaitla Pradeep, Mao Michael A, Bathini Tarun, Boonpheng Boonphiphop, Kanduri Swetha R, Kovvuru Karthik, Basu Arpita, Cheungpasitporn Wisit
Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Division of Nephrology, Department of Internal Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Diseases. 2020 Dec 23;9(1):2. doi: 10.3390/diseases9010002.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with progressive systemic deposition of globotriaosylceramide, leading to life-threatening cardiac, central nervous system, and kidney disease. Current therapy involves symptomatic medical management, enzyme replacement therapy (ERT), dialysis, kidney transplantation, and, more recently, gene therapy. The aim of this systematic review was to assess outcomes of kidney transplantation among patients with FD.
A comprehensive literature review was conducted utilizing MEDLINE, EMBASE, and Cochrane Database, from inception through to 28 February 2020, to identify studies that evaluate outcomes of kidney transplantation including patient and allograft survival among kidney transplant patients with FD. Effect estimates from each study were extracted and combined using the random-effects generic inverse variance method of DerSimonian and Laird.
In total, 11 studies, including 424 kidney transplant recipients with FD, were enrolled. The post-transplant median follow-up time ranged from 3 to 11.5 years. Overall, the pooled estimated rates of all-cause graft failure, graft failure before death, and allograft rejection were 32.5% (95%CI: 23.9%-42.5%), 14.5% (95%CI: 8.4%-23.7%), and 20.2% (95%CI: 15.4%-25.9%), respectively. In the sensitivity analysis, limited only to the recent studies (year 2001 or newer when ERT became available), the pooled estimated rates of all-cause graft failure, graft failure before death, and allograft rejection were 28.1% (95%CI: 20.5%-37.3%), 11.7% (95%CI: 8.4%-16.0%), and 20.2% (95%CI: 15.5%-26.0%), respectively. The pooled estimated rate of biopsy proven FD recurrence was 11.1% (95%CI: 3.6%-29.4%), respectively. There are no significant differences in the risks of all-cause graft failure ( = 0.10) or mortality (0.48) among recipients with vs. without FD.
Despite possible FD recurrence after transplantation of 11.1%, allograft and patient survival are comparable among kidney transplant recipients with vs. without FD.
法布里病（FD）是一种罕见的X连锁溶酶体贮积症，球三糖神经酰胺在全身进行性沉积，可导致危及生命的心脏、中枢神经系统和肾脏疾病。目前的治疗方法包括对症药物治疗、酶替代疗法（ERT）、透析、肾移植，以及最近出现的基因治疗。本系统评价的目的是评估FD患者肾移植的结局。
利用MEDLINE、EMBASE和Cochrane数据库进行全面的文献综述，检索从建库至2020年2月28日期间评估肾移植结局的研究，包括FD肾移植受者的患者和移植物存活情况。提取每项研究的效应估计值，并使用DerSimonian和Laird的随机效应通用逆方差法进行合并。
共纳入11项研究，包括424例FD肾移植受者。移植后的中位随访时间为3至11.5年。总体而言，全因移植物失败、死亡前移植物失败和移植物排斥的合并估计发生率分别为32.5%（95%CI：23.9%-42.5%）、14.5%（95%CI：8.4%-23.7%）和20.2%（95%CI：15.4%-25.9%）。在敏感性分析中，仅纳入最近的研究（ERT可用后的2001年或更新年份），全因移植物失败、死亡前移植物失败和移植物排斥的合并估计发生率分别为28.1%（95%CI：20.5%-37.3%）、11.7%（95%CI：8.4%-16.0%）和20.2%（95%CI：15.5%-26.0%）。活检证实的FD复发的合并估计发生率为11.1%（95%CI：3.6%-29.4%）。有FD和无FD的受者在全因移植物失败风险（P = 0.10）或死亡率（P = 0.48）方面无显著差异。
尽管移植后FD复发的可能性为11.1%，但有FD和无FD的肾移植受者的移植物和患者存活率相当。
