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

Author:

Li Dawei,Wang Wei,Chen Ruoyang,Wen Jiqiu,Zhang Ming

Funder

National Natural Science Foundation of China

Special Supportive Program for Organ Transplantation

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Reference13 articles.

1. Garg N, Rennke HG, Pavlakis M, Zandi-Nejad K (2018) De novo thrombotic microangiopathy after kidney transplantation. Transplant Rev (Orlando) 32(1):58–68

2. Bu F, Maga T, Meyer NC, Wang K, Thomas CP, Nester CM, Smith RJ (2014) Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol 25(1):55–64

3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424

4. Heinen S, Hartmann A, Lauer N, Wiehl U, Dahse HM, Schirmer S, Gropp K, Enghardt T, Wallich R, Hälbich S, Mihlan M, Schlötzer-Schrehardt U, Zipfel PF, Skerka C (2009) Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation. Blood 114(12):2439–2447

5. Bhattacharjee A, Reuter S, Trojnár E, Kolodziejczyk R, Seeberger H, Hyvärinen S, Uzonyi B, Szilágyi Á, Prohászka Z, Goldman A, Józsi M, Jokiranta TS (2015) The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease. J Biol Chem 290(15):9500–9510

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