Literature DB >> 20157737

DEAP-HUS: deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome.

Peter F Zipfel1, Christoph Mache, Dominik Müller, Christoph Licht, Marianne Wigger, Christine Skerka.   

Abstract

DEAP-HUS [Deficiency of CFHR (complement factor H-related) plasma proteins and Autoantibody Positive form of Hemolytic Uremic Syndrome] represents a novel subtype of hemolytic uremic syndrome (HUS) with unique characteristics. It affects children and requires special clinical attention in terms of diagnosis and therapy. DEAP-HUS and other atypical forms of HUS share common features, such as microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. However, DEAP-HUS has the unique combination of an acquired factor in the form of autoantibodies to the complement inhibitor Factor H and a genetic factor which, in most cases, is the chromosomal deletion of a 84-kbp fragment within human chromosome 1 that results in the absence of the CFHR1 and CFHR3 proteins in plasma. Special attention is required to diagnose and treat DEAP-HUS patients. Most patients show a favorable response to the reduction of autoantibody titers by either plasma therapy, steroid treatment, and/or immunosuppression. In addition, in those DEAP-HUS patients with end-stage renal disease, the reduction of autoantibody titers prior to transplantation is expected to prevent post-transplant disease recurrence by aiming for full complement control at the endothelial cell surface in order to minimize adverse complement and immune reactions.

Entities:  

Mesh:

Substances:

Year:  2010        PMID: 20157737     DOI: 10.1007/s00467-010-1446-9

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


  54 in total

1.  An integrated map of the human regulator of complement activation (RCA) gene cluster on 1q32.

Authors:  S Rodríguez de Córdoba; M A Díaz-Guillén; D Heine-Suñer
Journal:  Mol Immunol       Date:  1999 Sep-Oct       Impact factor: 4.407

2.  Eculizumab for atypical hemolytic-uremic syndrome.

Authors:  Jens Nürnberger; Thomas Philipp; Oliver Witzke; Anabelle Opazo Saez; Udo Vester; Hideo Andreas Baba; Andreas Kribben; Lothar Bernd Zimmerhackl; Andreas R Janecke; Mato Nagel; Michael Kirschfink
Journal:  N Engl J Med       Date:  2009-01-29       Impact factor: 91.245

3.  The human factor H-related protein 4 (FHR-4). A novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins.

Authors:  C Skerka; J Hellwage; W Weber; A Tilkorn; F Buck; T Marti; E Kampen; U Beisiegel; P F Zipfel
Journal:  J Biol Chem       Date:  1997-02-28       Impact factor: 5.157

4.  The C-terminus of factor H: monoclonal antibodies inhibit heparin binding and identify epitopes common to factor H and factor H-related proteins.

Authors:  W M Prodinger; J Hellwage; M Spruth; M P Dierich; P F Zipfel
Journal:  Biochem J       Date:  1998-04-01       Impact factor: 3.857

5.  Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome.

Authors:  Stefanie Strobel; Peter F Hoyer; Christoph J Mache; Endre Sulyok; Wei-Shih Liu; Heiko Richter; Martin Oppermann; Peter F Zipfel; Mihály Józsi
Journal:  Nephrol Dial Transplant       Date:  2009-08-07       Impact factor: 5.992

6.  Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two cases.

Authors:  Theresa Kwon; Alexandre Belot; Bruno Ranchin; Véronique Baudouin; Véronique Fremeaux-Bacchi; Marie-Agnès Dragon-Durey; Pierre Cochat; Chantal Loirat
Journal:  Nephrol Dial Transplant       Date:  2009-04-17       Impact factor: 5.992

Review 7.  Autoimmune forms of thrombotic microangiopathy and membranoproliferative glomerulonephritis: Indications for a disease spectrum and common pathogenic principles.

Authors:  Christine Skerka; Christoph Licht; Michael Mengel; Barbara Uzonyi; Stefanie Strobel; Peter F Zipfel; Mihály Józsi
Journal:  Mol Immunol       Date:  2009-07-28       Impact factor: 4.407

8.  Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation.

Authors:  Stefan Heinen; Andrea Hartmann; Nadine Lauer; Ulrike Wiehl; Hans-Martin Dahse; Sylvia Schirmer; Katharina Gropp; Tina Enghardt; Reinhard Wallich; Steffi Hälbich; Michael Mihlan; Ursula Schlötzer-Schrehardt; Peter F Zipfel; Christine Skerka
Journal:  Blood       Date:  2009-06-15       Impact factor: 22.113

9.  ADAMTS13 autoantibodies in patients with thrombotic microangiopathies and other immunomediated diseases.

Authors:  Manfred Rieger; Pier Mannuccio Mannucci; Johanna A Kremer Hovinga; Andrea Herzog; Gabi Gerstenbauer; Christian Konetschny; Klaus Zimmermann; Inge Scharrer; Flora Peyvandi; Miriam Galbusera; Giuseppe Remuzzi; Martina Böhm; Barbara Plaimauer; Bernhard Lämmle; Friedrich Scheiflinger
Journal:  Blood       Date:  2005-05-12       Impact factor: 22.113

10.  Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

Authors:  Peter F Zipfel; Matthew Edey; Stefan Heinen; Mihály Józsi; Heiko Richter; Joachim Misselwitz; Bernd Hoppe; Danny Routledge; Lisa Strain; Anne E Hughes; Judith A Goodship; Christoph Licht; Timothy H J Goodship; Christine Skerka
Journal:  PLoS Genet       Date:  2007-02-01       Impact factor: 5.917

View more
  25 in total

1.  Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case.

Authors:  Elisa Gnappi; Marco Allinovi; Augusto Vaglio; Elena Bresin; Annalisa Sorosina; Francesco P Pilato; Landino Allegri; Lucio Manenti
Journal:  Pediatr Nephrol       Date:  2012-06-05       Impact factor: 3.714

Review 2.  CFHR Gene Variations Provide Insights in the Pathogenesis of the Kidney Diseases Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Authors:  Peter F Zipfel; Thorsten Wiech; Emma D Stea; Christine Skerka
Journal:  J Am Soc Nephrol       Date:  2020-01-24       Impact factor: 10.121

Review 3.  Genetics of age-related macular degeneration: current concepts, future directions.

Authors:  Margaret M Deangelis; Alexandra C Silveira; Elizabeth A Carr; Ivana K Kim
Journal:  Semin Ophthalmol       Date:  2011-05       Impact factor: 1.975

Review 4.  Novel developments in thrombotic microangiopathies: is there a common link between hemolytic uremic syndrome and thrombotic thrombocytic purpura?

Authors:  Peter F Zipfel; Gunter Wolf; Ulrike John; Karim Kentouche; Christine Skerka
Journal:  Pediatr Nephrol       Date:  2011-06-14       Impact factor: 3.714

5.  Does early initiation of therapeutic plasma exchange improve outcome in pediatric stem cell transplant-associated thrombotic microangiopathy?

Authors:  Sonata Jodele; Benjamin L Laskin; Jens Goebel; Jane C Khoury; Susan L Pinkard; Patricia M Carey; Stella M Davies
Journal:  Transfusion       Date:  2012-07-15       Impact factor: 3.157

Review 6.  Complement regulation and kidney diseases: recent knowledge of the double-edged roles of complement activation in nephrology.

Authors:  Masashi Mizuno; Yasuhiro Suzuki; Yasuhiko Ito
Journal:  Clin Exp Nephrol       Date:  2017-03-24       Impact factor: 2.801

7.  Complement-Regulatory Proteins CFHR1 and CFHR3 and Patient Response to Anti-CD20 Monoclonal Antibody Therapy.

Authors:  Laura M Rogers; Sarah L Mott; Brian J Smith; Brian K Link; Deniz Sahin; George J Weiner
Journal:  Clin Cancer Res       Date:  2016-08-15       Impact factor: 12.531

Review 8.  Anti-complement-factor H-associated glomerulopathies.

Authors:  Marie-Agnes Dragon Durey; Aditi Sinha; Shambhuprasad Kotresh Togarsimalemath; Arvind Bagga
Journal:  Nat Rev Nephrol       Date:  2016-07-25       Impact factor: 28.314

9.  New insights into disease-specific absence of complement factor H related protein C in mouse models of spontaneous autoimmune diseases.

Authors:  Gaurav Mehta; Viviana P Ferreira; Christine Skerka; Peter F Zipfel; Nirmal K Banda
Journal:  Mol Immunol       Date:  2014-07-15       Impact factor: 4.407

Review 10.  The Genetics of Ultra-Rare Renal Disease.

Authors:  Melissa Muff-Luett; Carla M Nester
Journal:  J Pediatr Genet       Date:  2016-02-23
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.