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膜性肾病患者因补体因子I致病突变导致的移植后血栓性微血管病:病例报告及文献复习

Post-Transplant Thrombotic Microangiopathy due to a Pathogenic Mutation in Complement Factor I in a Patient With Membranous Nephropathy: Case Report and Review of Literature.

作者信息

Saleem Maryam, Shaikh Sana, Hu Zheng, Pozzi Nicola, Java Anuja

机构信息

Division of Nephrology, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.

Division of Nephrology, Department of Medicine, University of California, San Francisco, San Francisco, CA, United States.

出版信息

Front Immunol. 2022 May 26;13:909503. doi: 10.3389/fimmu.2022.909503. eCollection 2022.

Abstract

Thrombotic microangiopathy (TMA) is characterized by microangiopathic hemolytic anemia, thrombocytopenia and organ injury occurring due to endothelial cell damage and microthrombi formation in small vessels. TMA is primary when a genetic or acquired defect is identified, as in atypical hemolytic uremic syndrome (aHUS) or secondary when occurring in the context of another disease process such as infection, autoimmune disease, malignancy or drugs. Differentiating between a primary complement-mediated process and one triggered by secondary factors is critical to initiate timely treatment but can be challenging for clinicians, especially after a kidney transplant due to presence of multiple confounding factors. Similarly, primary membranous nephropathy is an immune-mediated glomerular disease associated with circulating autoantibodies (directed against the M-type phospholipase A2 receptor (PLA2R) in 70% cases) while secondary membranous nephropathy is associated with infections, drugs, cancer, or other autoimmune diseases. Complement activation has also been proposed as a possible mechanism in the etiopathogenesis of primary membranous nephropathy; however, despite complement being a potentially common link, aHUS and primary membranous nephropathy have not been reported together. Herein we describe a case of aHUS due to a pathogenic mutation in complement factor I that developed after a kidney transplant in a patient with an underlying diagnosis of PLA2R antibody associated-membranous nephropathy. We highlight how a systematic and comprehensive analysis helped to define the etiology of aHUS, establish mechanism of disease, and facilitated timely treatment with eculizumab that led to recovery of his kidney function. Nonetheless, ongoing anti-complement therapy did not prevent recurrence of membranous nephropathy in the allograft. To our knowledge, this is the first report of a patient with primary membranous nephropathy and aHUS after a kidney transplant.

摘要

血栓性微血管病(TMA)的特征是微血管病性溶血性贫血、血小板减少以及由于小血管内皮细胞损伤和微血栓形成而导致的器官损伤。当发现遗传或获得性缺陷时,TMA为原发性,如非典型溶血性尿毒症综合征(aHUS);当发生在另一种疾病过程(如感染、自身免疫性疾病、恶性肿瘤或药物)的背景下时,TMA为继发性。区分原发性补体介导的过程和由继发性因素引发的过程对于及时开始治疗至关重要,但对临床医生来说可能具有挑战性,尤其是在肾移植后,因为存在多种混杂因素。同样,原发性膜性肾病是一种与循环自身抗体相关的免疫介导性肾小球疾病(70%的病例中针对M型磷脂酶A2受体(PLA2R)),而继发性膜性肾病与感染、药物、癌症或其他自身免疫性疾病有关。补体激活也被认为是原发性膜性肾病发病机制中的一种可能机制;然而,尽管补体可能是一个潜在的共同环节,但aHUS和原发性膜性肾病尚未同时被报道。在此,我们描述了一例因补体因子I致病突变导致的aHUS病例,该病例发生在一名潜在诊断为PLA2R抗体相关性膜性肾病的患者肾移植后。我们强调了系统全面的分析如何有助于确定aHUS的病因、建立疾病机制,并促进及时使用依库珠单抗治疗,从而使肾功能恢复。尽管如此,持续的抗补体治疗并未能预防移植肾中膜性肾病的复发。据我们所知,这是首例肾移植后原发性膜性肾病和aHUS患者的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09dc/9204634/28d1957507e5/fimmu-13-909503-g001.jpg

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