Literature DB >> 23624872

Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.

Rodney D Gilbert1, Darren J Fowler, Elizabeth Angus, Stephen A Hardy, Louise Stanley, Timothy H Goodship.   

Abstract

BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) is caused by dysregulated complement activation. A humanised anti-C5 monoclonal antibody has recently become available for treatment of this condition CASE-DIAGNOSIS/TREATMENT: We present the first description of an infant with an activating mutation of complement factor B successfully treated with eculizumab. On standard doses she had evidence of ongoing C5 cleavage despite a good clinical response.
CONCLUSIONS: Eculizumab is effective therapy for aHUS associated with factor B mutations, but recommended doses may not be adequate for all patients.

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Year:  2013        PMID: 23624872     DOI: 10.1007/s00467-013-2492-x

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  12 in total

Review 1.  Complement evasion by bacteria and parasites.

Authors:  K A Joiner
Journal:  Annu Rev Microbiol       Date:  1988       Impact factor: 15.500

2.  Profound neurological injury in a patient with atypical hemolytic uremic syndrome.

Authors:  Galena Salem; Joseph M Flynn; Spero R Cataland
Journal:  Ann Hematol       Date:  2012-11-09       Impact factor: 3.673

3.  Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation.

Authors:  Samhar I Al-Akash; P Stephen Almond; Van H Savell; Salam I Gharaybeh; Cris Hogue
Journal:  Pediatr Nephrol       Date:  2010-12-02       Impact factor: 3.714

4.  Peripheral gangrene in children with atypical hemolytic uremic syndrome.

Authors:  Michal Malina; Ashima Gulati; Arvind Bagga; Mohammad A Majid; Eva Simkova; Franz Schaefer
Journal:  Pediatrics       Date:  2012-12-10       Impact factor: 7.124

5.  Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

Authors:  Elena Goicoechea de Jorge; Claire L Harris; Jorge Esparza-Gordillo; Luis Carreras; Elena Aller Arranz; Cynthia Abarrategui Garrido; Margarita López-Trascasa; Pilar Sánchez-Corral; B Paul Morgan; Santiago Rodríguez de Córdoba
Journal:  Proc Natl Acad Sci U S A       Date:  2006-12-20       Impact factor: 11.205

6.  Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

Authors:  Tara K Maga; Carla J Nishimura; Amy E Weaver; Kathy L Frees; Richard J H Smith
Journal:  Hum Mutat       Date:  2010-06       Impact factor: 4.878

7.  Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation.

Authors:  F Semsa Cayci; Nilgun Cakar; Veysel Sabri Hancer; Nermin Uncu; Banu Acar; Gokce Gur
Journal:  Pediatr Nephrol       Date:  2012-08-19       Impact factor: 3.714

Review 8.  Manipulating the mediator: modulation of the alternative complement pathway C3 convertase in health, disease and therapy.

Authors:  Daniel Ricklin
Journal:  Immunobiology       Date:  2012-11       Impact factor: 3.144

9.  The tick-over theory revisited: formation and regulation of the soluble alternative complement C3 convertase (C3(H2O)Bb).

Authors:  Fredrik Bexborn; Per Ola Andersson; Hui Chen; Bo Nilsson; Kristina N Ekdahl
Journal:  Mol Immunol       Date:  2007-12-21       Impact factor: 4.407

Review 10.  Atypical hemolytic uremic syndrome.

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

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  12 in total

Review 1.  An international consensus approach to the management of atypical hemolytic uremic syndrome in children.

Authors:  Chantal Loirat; Fadi Fakhouri; Gema Ariceta; Nesrin Besbas; Martin Bitzan; Anna Bjerre; Rosanna Coppo; Francesco Emma; Sally Johnson; Diana Karpman; Daniel Landau; Craig B Langman; Anne-Laure Lapeyraque; Christoph Licht; Carla Nester; Carmine Pecoraro; Magdalena Riedl; Nicole C A J van de Kar; Johan Van de Walle; Marina Vivarelli; Véronique Frémeaux-Bacchi
Journal:  Pediatr Nephrol       Date:  2015-04-11       Impact factor: 3.714

2.  Eculizumab in atypical haemolytic uraemic syndrome with severe cardiac and neurological involvement.

Authors:  Hushi Hu; Arvind Nagra; Mushfequr R Haq; Rodney D Gilbert
Journal:  Pediatr Nephrol       Date:  2013-12-08       Impact factor: 3.714

Review 3.  Hemolytic uremic syndrome.

Authors:  Caterina Mele; Giuseppe Remuzzi; Marina Noris
Journal:  Semin Immunopathol       Date:  2014-02-14       Impact factor: 9.623

Review 4.  Advances and challenges in the management of complement-mediated thrombotic microangiopathies.

Authors:  Jean-Claude Davin; Nicole C A J van de Kar
Journal:  Ther Adv Hematol       Date:  2015-08

5.  A complicated case of atypical hemolytic uremic syndrome with frequent relapses under eculizumab.

Authors:  Gesa Schalk; Michael Kirschfink; Cyrill Wehling; Sara Gastoldi; Carsten Bergmann; Bernd Hoppe; Lutz T Weber
Journal:  Pediatr Nephrol       Date:  2015-03-10       Impact factor: 3.714

6.  Eculizumab therapy leads to rapid resolution of thrombocytopenia in atypical hemolytic uremic syndrome.

Authors:  Han-Mou Tsai; Elizabeth Kuo
Journal:  Adv Hematol       Date:  2014-10-22

7.  Neonatal atypical hemolytic uremic syndrome from a factor H mutation treated with eculizumab.

Authors:  Sheena Sharma; Madhura Pradhan; Kevin E C Meyers; Krisha Le Palma; Benjamin L Laskin
Journal:  Clin Nephrol       Date:  2015-09       Impact factor: 0.975

8.  Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?

Authors:  Maria Chiara Marinozzi; Laura Vergoz; Tania Rybkine; Stephanie Ngo; Serena Bettoni; Anastas Pashov; Mathieu Cayla; Fanny Tabarin; Mathieu Jablonski; Christophe Hue; Richard J Smith; Marina Noris; Lise Halbwachs-Mecarelli; Roberta Donadelli; Veronique Fremeaux-Bacchi; Lubka T Roumenina
Journal:  J Am Soc Nephrol       Date:  2014-03-20       Impact factor: 10.121

Review 9.  Complement therapy in atypical haemolytic uraemic syndrome (aHUS).

Authors:  Edwin K S Wong; Tim H J Goodship; David Kavanagh
Journal:  Mol Immunol       Date:  2013-06-28       Impact factor: 4.174

Review 10.  Critical appraisal of eculizumab for atypical hemolytic uremic syndrome.

Authors:  Lilian M Pereira Palma; Craig B Langman
Journal:  J Blood Med       Date:  2016-04-12
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