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De novo systemic atypical hemolytic uremic syndrome in an ABO-incompatible living kidney transplant recipient with a novel pathogenic CFHR1 gene mutation successfully treated with eculizumab: a case report

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Abstract

De novo systemic atypical hemolytic uremic syndrome (aHUS) post-kidney transplant is an uncommon entity associated with unfavorable outcome. We herein report a case of systemic and fulminant de novo aHUS accompanied by heart and respiratory failure in a 48-year-old male receiving ABO-incompatible living-related kidney transplant who was successfully treated with the anti-C5 monoclonal antibody eculizumab with complete recovery of allograft function. Genetic testing demonstrated a novel pathogenic heterozygous complement factor H-related 1 gene mutation in both the donor and the recipient. Our study highlights the high risks of post-transplant aHUS due to the complement gene mutations in both donor and recipient in living-related transplantation. Early intervention with eculizumab may be effective for reversing systemic aHUS in kidney transplant recipients.

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Funding

This work was supported by a grant from Special Supportive Program for Organ Transplantation by COTDF to Dawei Li (Grant no. 2019JYJH14), and National Natural Science Foundation of China to Jiqiu Wen (Grant no. 81570681) and Wei Wang (Grant no. 82000731).

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Author notes

  1. Dawei Li and Wei Wang contributed equally to this study.

Authors and Affiliations

  1. Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China

    Dawei Li, Ruoyang Chen & Ming Zhang

  2. Department of Nephrology, Shanghai Tenth People’s Hospital, Shanghai, China

    Wei Wang

  3. National Clinical Research Center for Kidney Diseases, Jinling Hospital, Medical School of Nanjing University, Nanjing, China

    Jiqiu Wen

Authors
  1. Dawei Li
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  2. Wei Wang
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  3. Ruoyang Chen
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  4. Jiqiu Wen
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  5. Ming Zhang
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Corresponding authors

Correspondence to Jiqiu Wen or Ming Zhang.

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Written informed consent was obtained from the patient for the publication of this case report and accompanying images.

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Li, D., Wang, W., Chen, R. et al. De novo systemic atypical hemolytic uremic syndrome in an ABO-incompatible living kidney transplant recipient with a novel pathogenic CFHR1 gene mutation successfully treated with eculizumab: a case report. J Nephrol 35, 1895–1899 (2022). https://doi.org/10.1007/s40620-022-01391-0

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  • DOI: https://doi.org/10.1007/s40620-022-01391-0

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