A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Hanan TawadrousMorris Schoeneman

Abstract

We report the case of an 8-year-old girl diagnosed with atypical hemolytic uremic syndrome (aHUS) with a complement factor B (CFB) gene mutation. aHUS is a disease of complement dysregulation. In approximately 50% of patients, mutations are identified in genes encoding regulators of complement-complement factor H (CFH), membrane cofactor protein or complement factor I (CFI)-or activators of complement-complement factor B (CFB) or C3. The mutation in this patient was identified in exon 12 of CFB and changes a lysine at amino acid position 533 to an arginine (c.1598A>G p.Lys533Arg). The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7.

References

Apr 29, 1998·Kidney International·P WarwickerJ A Goodship
Sep 25, 1998·The Journal of Biological Chemistry·D E HourcadeT J Oglesby
Feb 7, 2001·Journal of the American Society of Nephrology : JASN·Jessica CaprioliMarina Noris
Mar 28, 2002·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Jon D Stratton, Paul Warwicker
Aug 23, 2002·The New England Journal of Medicine·Joel L Moake
Oct 21, 2003·Proceedings of the National Academy of Sciences of the United States of America·Anna RichardsTimothy H J Goodship
Jun 3, 2004·Journal of Medical Genetics·V Fremeaux-BacchiW H Fridman
Dec 14, 2004·Journal of the American Society of Nephrology : JASN·Marie-Agnès Dragon-DureyVéronique Frémeaux-Bacchi
Jan 25, 2006·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Jean-Claude DavinTimothy H J Goodship
Jun 10, 2006·Journal of the American Society of Nephrology : JASN·Véronique Fremeaux-BacchiJohn P Atkinson
Jun 14, 2006·Proceedings of the National Academy of Sciences of the United States of America·M C PickeringM Botto
Aug 8, 2006·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·J M SalandT H J Goodship
Dec 22, 2006·Proceedings of the National Academy of Sciences of the United States of America·Elena Goicoechea de JorgeSantiago Rodríguez de Córdoba
Jun 30, 2007·Journal of the American Society of Nephrology : JASN·Anne-Laure Sellier-LeclercUNKNOWN French Society of Pediatric Nephrology
Jul 10, 2007·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·V Frémeaux-BacchiA Dürrbach
May 17, 2008·Pediatric Transplantation·Chantal Loirat, Véronique Fremeaux-Bacchi
Jul 3, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Chantal LoiratVéronique Fremeaux-Bacchi
Dec 19, 2008·Journal of the American Society of Nephrology : JASN·Jeffrey M SalandUNKNOWN Consensus Study Group
Jan 13, 2009·Proceedings of the National Academy of Sciences of the United States of America·Eva TorreiraOscar Llorca

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Citations

Mar 15, 2013·Current Opinion in Pediatrics·Carla M Nester, Patrick D Brophy
Nov 3, 2010·Nephrology·Allison M Lesher, Wen-Chao Song
Sep 10, 2011·Orphanet Journal of Rare Diseases·Chantal Loirat, Véronique Frémeaux-Bacchi
Jul 26, 2011·Journal of the American Society of Nephrology : JASN·Maria Asuncion Abrera-AbeledaRichard J H Smith
Jul 20, 2014·Advances in Pediatrics·Larry A Greenbaum
Jun 8, 2014·Journal of Clinical Immunology·Michinori FunatoNaomi Kondo
Feb 15, 2014·Seminars in Immunopathology·Caterina MeleMarina Noris
May 28, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Carla NesterPatrick Brophy
Oct 29, 2013·Seminars in Nephrology·David KavanaghAnna Richards
Jul 16, 2010·British Journal of Haematology·Pilar Sánchez-Corral, Marta Melgosa
Jul 3, 2013·Molecular Immunology·Edwin K S WongDavid Kavanagh
Apr 7, 2015·Molecular Immunology·Carla M NesterRichard J H Smith
Jul 19, 2013·Mediators of Inflammation·Jun WangXiao Min Liu
Apr 19, 2017·Blood·T Sakari Jokiranta
Sep 25, 2017·Clinical and Experimental Nephrology·R W ThergaonkarArvind Bagga
Aug 20, 2015·Therapeutic Advances in Hematology·Jean-Claude Davin, Nicole C A J van de Kar
Jul 16, 2017·BMJ Case Reports·Natália NoronhaAlexandra Dinis
Mar 22, 2014·Journal of the American Society of Nephrology : JASN·Maria Chiara MarinozziLubka T Roumenina
Jul 27, 2018·Research and Practice in Thrombosis and Haemostasis·Teresa FidalgoM Letícia Ribeiro
Feb 9, 2020·Journal of the American Society of Nephrology : JASN·Sophie ChauvetVéronique Frémeaux-Bacchi
Dec 5, 2020·Indian Journal of Nephrology·Malsawmkima Chhakchhuak, Jony Agarwal

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