A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
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DOI：
10.1007/s00467-021-05134-4
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发表时间：
2021-11
期刊：
影响因子：
--
通讯作者：
Bierzynska A
中科院分区：
文献类型：
--
作者：
Mason AE;Saleem MA;Bierzynska A
在儿科人群中，足细胞蛋白的遗传缺陷占激素抵抗型肾病综合征(SRNS)的30%。大多数患有遗传性SRNS的儿童对免疫抑制具有抵抗力，并有很高的风险进展为5期慢性肾脏疾病。肾移植往往是首选的治疗方法。遗传性SRN中移植后疾病复发的可能性仍然存在争议，并提出了关于疾病生物学的基本问题。我们对已发表的遗传患者移植后复发的病例进行了严格的评估，特别是与最新的人群变异数据库进行了‘突变’测试，以澄清诊断，并比较临床病程和治疗反应。NPHS1的双等位致病变异体导致完全缺乏neparin是移植后发生的肾病综合征中最常见和最了解的病例。这是一个免疫介导的过程，由同种异体移植物中产生的针对新的neparin蛋白的抗体驱动。我们还发现了一些可信的移植后复发病例，涉及NPHS2(8名患者，双等位基因)、WT1(单等位基因)和NUP93(双等位基因)的致病变异。然而，这些病例复发的机制仍不清楚。其他遗传性疾病复发的情况很难解释，因为临床标准不同，纳入的患者没有真正的致病变异，或者其他因素对肾脏结果的影响。总体而言，遗传性SRNS患者移植后复发仍然非常罕见。它似乎发生在移植后比其他患者更晚，通常对血浆置换反应良好，肾脏预后良好。网上版载有补充材料，可在10.1007/s00467-021-05134-4查阅。
Genetic defects in podocyte proteins account for up to 30% of steroid-resistant nephrotic syndrome (SRNS) in the paediatric population. Most children with genetic SRNS are resistant to immunosuppression and at high risk of progression to stage 5 chronic kidney disease. Kidney transplantation is often the treatment of choice. The possibility of post-transplantation disease recurrence in genetic SRNS remains controversial, and poses fundamental questions about disease biology. We critically evaluated the published cases of post-transplantation recurrence in genetic patients, particularly testing ‘mutations’ against the most recent population variant databases, in order to clarify the diagnoses, and compare the clinical courses and responses to therapy. Biallelic pathogenic variants in NPHS1 leading to a complete absence of nephrin were the most commonly reported and best understood instance of nephrotic syndrome occurring post-transplantation. This is an immune-mediated process driven by antibody production against the novel nephrin protein in the allograft. We also identified a number of plausible reported cases of post-transplantation recurrence involving pathogenic variants in NPHS2 (8 patients, biallelic), one in WT1 (monoallelic) and one in NUP93 (biallelic). However, the mechanism for recurrence in these cases remains unclear. Other instances of recurrence in genetic disease were difficult to interpret due to differing clinical criteria, inclusion of patients without true pathogenic variants or the influence of other factors on renal outcome. Overall, post-transplantation recurrence remains very rare in patients with genetic SRNS. It appears to occur later after transplantation than in other patients and usually responds well to plasmapheresis with a good renal outcome. The online version contains supplementary material available at 10.1007/s00467-021-05134-4.
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影响因子：
6.1
作者：
Braun, Daniela A.;Warejko, Jillian K.;Hildebrandt, Friedhelm
通讯作者：
Hildebrandt, Friedhelm
影响因子：
13.6
作者：
Coward, RJM;Foster, RR;Saleem, MA
通讯作者：
Saleem, MA
影响因子：
9.8
作者：
Dorval, Guillaume;Kuzmuk, Valeryia;Antignac, Corinne
通讯作者：
Antignac, Corinne
DOI：
10.1097/01.asn.0000060578.79050.e0
发表时间：
2003-05-01
影响因子：
13.6
作者：
Caridi, G;Bertelli, R;Ghiggeri, GM
通讯作者：
Ghiggeri, GM
影响因子：
16.6
作者：
Ashraf S;Kudo H;Rao J;Kikuchi A;Widmeier E;Lawson JA;Tan W;Hermle T;Warejko JK;Shril S;Airik M;Jobst-Schwan T;Lovric S;Braun DA;Gee HY;Schapiro D;Majmundar AJ;Sadowski CE;Pabst WL;Daga A;van der Ven AT;Schmidt JM;Low BC;Gupta AB;Tripathi BK;Wong J;Campbell K;Metcalfe K;Schanze D;Niihori T;Kaito H;Nozu K;Tsukaguchi H;Tanaka R;Hamahira K;Kobayashi Y;Takizawa T;Funayama R;Nakayama K;Aoki Y;Kumagai N;Iijima K;Fehrenbach H;Kari JA;El Desoky S;Jalalah S;Bogdanovic R;Stajić N;Zappel H;Rakhmetova A;Wassmer SR;Jungraithmayr T;Strehlau J;Kumar AS;Bagga A;Soliman NA;Mane SM;Kaufman L;Lowy DR;Jairajpuri MA;Lifton RP;Pei Y;Zenker M;Kure S;Hildebrandt F
通讯作者：
Hildebrandt F