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移植携带APOL1风险变异的肾脏可能与局灶节段性肾小球硬化复发的终生风险相关:一例病例报告及文献综述

Transplantation With APOL1 Risk Variant Kidney May Be Associated With Lifetime Risk for Recurrence of Focal Segmental Glomerulosclerosis: A Case Report and Review of Literature.

作者信息

Mirza Alamgir, Kowalewska Jolanta, McCune Thomas

机构信息

Nephrology Department, Eastern Virginia Medical School, Norfolk, Virginia.

Department of Pathology and Anatomy, Eastern Virginia Medical School, Norfolk, Virginia.

出版信息

Transplant Proc. 2019 Nov;51(9):3077-3079. doi: 10.1016/j.transproceed.2019.04.056. Epub 2019 Jul 16.

Abstract

The APOL1 gene mutation is increasingly recognized as an import factor in living kidney donation. APOL1 gene variants prevalent in the African American population have been associated with increased risk of glomerulopathy. Shorter allograft survival is seen in transplants from donors who had 2 risk APOL1 gene alleles. In the early posttransplant period, kidneys with 2 risk alleles of APOL1 had higher risk of graft loss compared to 1 or 0 risk alleles, but by year 4 of transplant it was almost similar. The authors have suggested that recipients of kidney transplants with 2 risk alleles may only be at risk for kidney failure during the early initial period. We present here a case of a patient with 2 risk APOL1 alleles who received renal transplant from her identical twin and developed glomerulopathy 18 years after the transplant. No case of APOL1-associated recurrent glomerulonephritis has been described in a recipient after 10 years. This suggests that the risk of recurrence of glomerulopathy in allograft transplants with 2 risk allele variants may not be limited to the initial post-transplant period; rather, it may be a lifetime risk.

摘要

载脂蛋白L1(APOL1)基因突变日益被认为是活体肾移植中的一个重要因素。非裔美国人中普遍存在的APOL1基因变异与肾小球病风险增加有关。在具有两个风险APOL1基因等位基因的供体的移植中,观察到移植肾的存活时间较短。在移植后早期,与具有1个或0个风险等位基因的肾脏相比,具有两个APOL1风险等位基因的肾脏移植失败风险更高,但到移植后第4年时,情况几乎相似。作者提出,具有两个风险等位基因的肾移植受者可能仅在早期初始阶段有肾衰竭风险。我们在此介绍一例具有两个APOL1风险等位基因的患者,她接受了同卵双胞胎的肾脏移植,并在移植18年后发生了肾小球病。此前尚未有过在移植10年后受者发生APOL1相关复发性肾小球肾炎的病例报道。这表明,具有两个风险等位基因变异的移植肾发生肾小球病复发的风险可能不限于移植后初期;相反,这可能是一种终身风险。

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