Literature DB >> 19459807

Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor I and MCP.

J M Cruzado1, S Rodríguez de Córdoba, E Melilli, O Bestard, I Rama, P Sánchez-Corral, M López-Trascasa, I Navarro, J Torras, M Gomà, J M Grinyó.   

Abstract

Kidney transplantation in patients with atypical hemolytic uremic syndrome (aHUS) carrying mutations in the soluble complement regulators factor H (CFH) or factor I (CFI) is associated with elevated risk of disease recurrence and almost certain graft loss. In contrast, recurrence is unusual in patients with mutations in the membrane-associated complement regulator membrane cofactor protein (MCP) (CD46). Therefore, a panel of experts recently recommended the combined liver-kidney transplantation to minimize aHUS recurrence in patients with mutations in CFH or CFI. There was, however, very limited information regarding transplantation in patients carrying mutations in both soluble and membrane-associated complement regulators to support a recommendation. Here, we report the case of an aHUS patient with a heterozygous mutation in both CFI and MCP who received an isolated kidney transplant expressing normal MCP levels. Critically, the patient suffered from a severe antibody-mediated rejection that was successfully treated with plasmapheresis and IvIgG. Most important, despite the complement activation in the allograft, there was no evidence of thrombotic microangiopathy, suggesting that the normal MCP levels in the grafted kidney were sufficient to prevent the aHUS recurrence. Our results suggest that isolated kidney transplantation may be a good first option for care in aHUS patients carrying CFI/MCP combined heterozygous mutations.

Entities:  

Mesh:

Substances:

Year:  2009        PMID: 19459807     DOI: 10.1111/j.1600-6143.2009.02647.x

Source DB:  PubMed          Journal:  Am J Transplant        ISSN: 1600-6135            Impact factor:   8.086


  14 in total

Review 1.  Review: Complement and its regulatory proteins in kidney diseases.

Authors:  Allison M Lesher; Wen-Chao Song
Journal:  Nephrology (Carlton)       Date:  2010-10       Impact factor: 2.506

2.  Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Authors:  Elena Bresin; Erica Rurali; Jessica Caprioli; Pilar Sanchez-Corral; Veronique Fremeaux-Bacchi; Santiago Rodriguez de Cordoba; Sheila Pinto; Timothy H J Goodship; Marta Alberti; David Ribes; Elisabetta Valoti; Giuseppe Remuzzi; Marina Noris
Journal:  J Am Soc Nephrol       Date:  2013-02-21       Impact factor: 10.121

Review 3.  New insights into postrenal transplant hemolytic uremic syndrome.

Authors:  Julien Zuber; Moglie Le Quintrec; Rebecca Sberro-Soussan; Chantal Loirat; Véronique Frémeaux-Bacchi; Christophe Legendre
Journal:  Nat Rev Nephrol       Date:  2010-11-23       Impact factor: 28.314

Review 4.  aHUS caused by complement dysregulation: new therapies on the horizon.

Authors:  Aoife M Waters; Christoph Licht
Journal:  Pediatr Nephrol       Date:  2010-06-18       Impact factor: 3.714

5.  Characterization of genetic predisposition and autoantibody profile in atypical haemolytic-uraemic syndrome.

Authors:  Bahadur Singh Gurjar; Tholu Manikanta Sriharsha; Angika Bhasym; Savit Prabhu; Mamta Puraswani; Priyanka Khandelwal; Himanshi Saini; Savita Saini; Anita Kamra Verma; Priyadarshini Chatterjee; Prasenjit Guchhait; Vineeta Bal; Anna George; Satyajit Rath; Arvind Sahu; Amita Sharma; Pankaj Hari; Aditi Sinha; Arvind Bagga
Journal:  Immunology       Date:  2018-02-27       Impact factor: 7.397

6.  Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations.

Authors:  Werner Lukas Pabst; Thomas J Neuhaus; Samuel Nef; Elena Bresin; Andrea Zingg-Schenk; Giuseppina Spartà
Journal:  Pediatr Nephrol       Date:  2013-03-22       Impact factor: 3.714

7.  Assesment, treatment and prevention of atypical hemolytic uremic syndrome.

Authors:  Azar Nickavar; Kambiz Sotoudeh
Journal:  Int J Prev Med       Date:  2013-01

Review 8.  Atypical hemolytic uremic syndrome.

Authors:  Chantal Loirat; Véronique Frémeaux-Bacchi
Journal:  Orphanet J Rare Dis       Date:  2011-09-08       Impact factor: 4.123

Review 9.  Thrombotic microangiopathy and associated renal disorders.

Authors:  Thomas Barbour; Sally Johnson; Solomon Cohney; Peter Hughes
Journal:  Nephrol Dial Transplant       Date:  2012-07       Impact factor: 5.992

10.  New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome.

Authors:  Daniela Lopes; Ana Marta Gomes; Cátia Cunha; Catarina Silva Pinto; Teresa Fidalgo; João Carlos Fernandes
Journal:  Clin Kidney J       Date:  2015-10-09
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.