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一位携带 1 个风险变异的肾移植受者中局灶节段性肾小球硬化的早期复发。

Early recurrence of focal segmental glomerulosclerosis in a kidney transplant recipient with one risk variant.

机构信息

Paediatrics, University of Florida, Gainesville, Florida, USA.

Paediatrics and Nephrology, University of Florida Health, Gainesville, Florida, USA

出版信息

BMJ Case Rep. 2023 May 31;16(5):e254593. doi: 10.1136/bcr-2023-254593.

Abstract

() risk variants (G1 and G2) are associated with focal segmental glomerulosclerosis (FSGS) in patients of African ancestry. The prevalence of two risk variants is lower in Hispanics and very rare in European and Asian populations. two risk variants in donor kidneys is associated with recipient kidney graft loss, however the effect of recipient risk variant in the kidney transplant outcome is unclear. Here, we present a late adolescent male with FSGS and end stage renal disease with one risk variant (G2) who had immediate recurrence of FSGS in the post-KT period. There was an excellent response to few sessions of plasmapheresis and Rituximab with no further recurrence of FSGS in the 1 year follow-up period. It needs to be seen whether the recipient single risk variant causes increased susceptibility to kidney graft loss on a long run via recurrent or de novo pathologies.

摘要

()风险变异(G1 和 G2)与非洲裔患者的局灶节段性肾小球硬化症(FSGS)相关。两种风险变异在西班牙裔人群中的发生率较低,在欧洲和亚洲人群中非常罕见。供体肾脏中的两种风险变异与受者肾脏移植物丢失相关,然而,受者肾脏移植结局中风险变异的影响尚不清楚。本研究报道了一例晚期青少年男性,患有 FSGS 和终末期肾病,携带一个风险变异(G2),在肾移植后即刻出现 FSGS 复发。经过几次血浆置换和利妥昔单抗治疗后,FSGS 立即得到了很好的缓解,在 1 年的随访期间没有再次复发。需要进一步观察受者携带的单个风险变异是否会通过反复或新出现的病变导致肾脏移植物丢失的易感性增加。

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本文引用的文献

1
Inaxaplin for Proteinuric Kidney Disease in Persons with Two Variants.
N Engl J Med. 2023 Mar 16;388(11):969-979. doi: 10.1056/NEJMoa2202396.
2
Recurrent Glomerular Disease after Kidney Transplantation: Diagnostic and Management Dilemmas.
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APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis.
Pediatr Nephrol. 2021 Sep;36(9):2747-2757. doi: 10.1007/s00467-021-04990-4. Epub 2021 Mar 1.
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Kidney Disease-Associated Variants Have Dose-Dependent, Dominant Toxic Gain-of-Function.
J Am Soc Nephrol. 2020 Sep;31(9):2083-2096. doi: 10.1681/ASN.2020010079. Epub 2020 Jul 16.
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