A novel mutation in the Complement Factor B gene (CFB) and atypical hemolytic uremic syndrome

Pediatric Nephrology

Volumn 25, Issue 5, 2010, Pages 947-951

  Tawadrous, Hanan ^a   Maga, Tara ^b   Sharma, Josefina ^a   Kupferman, Juan ^c   Smith, Richard J H ^b   Schoeneman, Morris ^a  

^a SUNY DOWNSTATE MEDICAL CENTER   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c MAIMONIDES MEDICAL CENTER   (United States)

Author keywords

Atypical hemolytic uremic syndrome; Complement; Factor B

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; MEMBRANE COFACTOR PROTEIN;

ABDOMINAL PAIN; AMINO ACID SUBSTITUTION; ANASARCA; ARTICLE; CASE REPORT; CHILD; DIARRHEA; ERYTHROCYTE TRANSFUSION; EXON; FATIGUE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HEMODIALYSIS; HEMOLYTIC UREMIC SYNDROME; HUMAN; HYPERTENSION; JAUNDICE; KIDNEY DYSFUNCTION; LABORATORY TEST; MUSCLE CRAMP; OLIGURIA; PHYSICAL EXAMINATION; PLASMAPHERESIS; PRIORITY JOURNAL; SCHOOL CHILD; VOMITING;

AMINO ACID SUBSTITUTION; CHILD; COMPLEMENT FACTOR B; DNA MUTATIONAL ANALYSIS; EXONS; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMOLYTIC-UREMIC SYNDROME; HUMANS; MUTATION; PHENOTYPE;

EID: 77951257162     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1415-3     Document Type: Article

References (25)

1. E Goicoechea de Jorge CL Harris J Esparza-Gordillo L Carreras AE Aller GC Abarrategui M López-Trascasa P Sánchez-Corral P Morgan S RodrIguez de Cordoba 2007 Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome Proc Natl Acad Sci USA 104 240 245 10.1073/pnas.0603420103 1:CAS:528:DC%2BD2sXjt1Ohsg%3D%3D 17182750 (Pubitemid 46068016)
2. J Caprioli P Bettinaglio PF Zipfel B Amadei E Daina S Gamba C Skerka N Marziliano G Remuzzi M Noris 2001 The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20 J Am Soc Nephrol 12 297 307 1:CAS:528:DC%2BD3MXhtl2msLw%3D 11158219 (Pubitemid 32116371)
3. P Warwicker TH Goodship RL Donne Y Pirson A Nicholls RM Ward P Turnpenny JA Goodship 1998 Genetic studies into inherited and sporadic hemolytic uremic syndrome Kidney Int 53 836 844 10.1111/j.1523-1755.1998.00824.x 1:CAS:528:DyaK1cXisVKmsb0%3D 9551389 (Pubitemid 28155655)
4. V Fremeaux-Bacchi EA Moulton D Kavanagh MA Dragon-Durey J Blouin A Caudy N Arzouk R Cleper M Francois G Guest J Pourrat R Seligman WH Fridman C Loirat JP Atkinson 2006 Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome J Am Soc Nephrol 17 2017 2025 10.1681/ASN.2005101051 1:CAS:528:DC%2BD28Xntlanu7w%3D 16762990 (Pubitemid 44036186)
5. A Richards EJ Kemp MK Liszewski JA Goodship AK Lampe R Decorte MH Muslumanoglu S Kavukcu G Filler Y Pirson LS Wen JP Atkinson TH Goodship 2003 Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome Proc Natl Acad Sci USA 100 12966 12971 10.1073/pnas.2135497100 1:CAS:528:DC%2BD3sXoslKmsrs%3D 14566051 (Pubitemid 37340009)
6. V Fremeaux-Bacchi MA Dragon-Durey J Blouin C Vigneau D Kuypers B Boudailliez C Loirat E Rondeau WH Fridman 2004 Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome J Med Genet 41 e84 10.1136/jmg.2004.019083 1:STN:280:DC%2BD2czgvFyjug%3D%3D 15173250
7. D Kavanagh A Richards M Noris R Hauhart MK Liszewski D Karpman JA Goodship V Fremeaux-Bacchi G Remuzzi TH Goodship JP Atkinson 2008 Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome Mol Immunol 45 95 105 10.1016/j.molimm.2007.05.004 1:CAS:528:DC%2BD2sXpsl2hsbk%3D 17597211 (Pubitemid 47336973)
8. MA Dragon-Durey C Loirat S Cloarec MA Macher J Blouin H Nivet L Weiss WH Fridman V Fremeaux-Bacchi 2005 Antifactor H autoantibodies associated with atypical hemolytic uremic syndrome J Am Soc Nephrol 16 555 563 10.1681/ASN.2004050380 1:CAS:528:DC%2BD2MXhvVCkt7g%3D 15590760 (Pubitemid 41725154)
9. M Jozsi C Licht S Strobel SL Zipfel H Richter S Heinen PF Zipfel C Skerka 2008 Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency Blood 111 1512 1514 10.1182/blood-2007-09-109876 1:CAS:528:DC%2BD1cXhvFejurY%3D 18006700 (Pubitemid 351213440)
10. V Fremeaux-Bacchi T Goodship C Regnier M Dragon-Durey B Janssen J Atkinson 2007 Mutations in complement C3 predispose to development of atypical haemolytic uraemic syndrome Mol Immunol 44 3923 10.1016/j.molimm.2007.06.038 (Pubitemid 47203855)
11. JL Moake 2002 Thrombotic microangiopathies N Engl J Med 347 589 600 10.1056/NEJMra020528 1:CAS:528:DC%2BD38Xmt1yit7Y%3D 12192020
12. D Hourcade L Mitchell T Oglesby 1998 A conserved element in the serine protease domain of complement factor B J Biol Chem 273 25996 26000 10.1074/jbc.273.40.25996 1:CAS:528:DyaK1cXms1egtLY%3D 9748277 (Pubitemid 28475832)
13. I Ponnuraj Y Xu K Macon D Moore JE Volanakis SV Narayana 2004 Structural analysis of engineered bb fragment of complement factor B: insights into the activation mechanism of the alternative pathway C3-convertase Mol Cell 14 17 28 10.1016/S1097-2765(04)00160-1 1:CAS:528:DC%2BD2cXjvVaqsbg%3D 15068800 (Pubitemid 38469906)
14. Torreiraa E, Tortajadaa A, Montes TA, de Cordoba SR, Llorcaa O (2009) 3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase. Proc Natl Acad Sci USA106:882-887
15. JD Stratton P Warwicker 2002 Successful treatment of factor H related haemolytic uraemic syndrome Nephrol Dial Transplant 17 684 685 10.1093/ndt/17.4.684 11917071 (Pubitemid 34308833)
16. JC Davin KH Olie R Verlaak F Horuz S Florquin JJ Weening JW Groothoff L Strain TH Goodship 2006 Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: concordant presentation, discordant response to treatment Am J Kidney Dis 47 e27 e30 10.1053/j.ajkd.2005.11.007 16431247 (Pubitemid 43121349)
17. AL Sellier-Leclerc V Fremeaux-Bacchi MA Dragon-Durey MA Macher P Niaudet G Guest B Boudailliez F Bouissou G Deschenes S Gie M Tsimaratos M Fischbach D Morin H Nivet C Alberti C Loirat 2007 Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome J Am Soc Nephrol 18 2392 2400 10.1681/ASN.2006080811 1:CAS:528:DC%2BD2sXpslers7o%3D 17599974 (Pubitemid 47203855)
18. MC Pickering HT Cook 2008 Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals Clin Exp Immunol 151 210 230 1:CAS:528: DC%2BD1cXitVWntL0%3D 18190458
19. JM Saland P Ruggenenti G Remuzzi the Consensus Study Group 2009 Liver-Kidney transplantation to cure atypical hemolytic uremic syndrome J Am Soc Nephrol 20 940 949 10.1681/ASN.2008080906 1:CAS:528:DC%2BD1MXlvFKqsbg%3D 19092117
20. MC Pickering J Warren KL Rose F Carlucci Y Wang MJ Walport HT Cook M Botto 2006 Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice Proc Natl Acad Sci USA 103 9649 9654 10.1073/pnas.0601094103 1:CAS:528:DC%2BD28XmsFOqs7o%3D 16769899 (Pubitemid 43955879)
21. C Loirat V Fremeaux-Bacchi 2008 Hemolytic uremic syndrome recurrence after renal transplantation Pediatr Transplant 12 619 629 10.1111/j.1399-3046. 2008.00910.x 1:CAS:528:DC%2BD1cXhtFSltbvM 18482212
22. V Fremeaux-Bacchi N Arzouk S Ferlicot B Charpentier R Snanoudj A Durrbach 2007 Recurrence of HUS due to CD46/MCP mutation after renal transplantation: a role for endothelial microchimerism Am J Transplant 7 2047 2051 10.1111/j.1600-6143.2007.01888.x 1:CAS:528:DC%2BD2sXpt1eju7c%3D 17617869 (Pubitemid 47037998)
23. JM Saland SH Emre BL Shneider C Benchimol S Ames JS Bromberg G Remuzzi L Strain TH Goodship 2006 Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation Am J Transplant 6 1948 1952 10.1111/j.1600-6143.2006.01375.x 1:STN:280:DC%2BD28vms1ahsg%3D%3D 16889549 (Pubitemid 44024968)
24. H Jalanko S Peltonen A Koskinen J Puntila H Isoniemi C Holmberg A Pinomaki E Armstrong A Koivusalo E Tukiainen H Makisalo J Saland G Remuzzi S de Cordoba R Lassila S Meri TS Jokiranta 2008 Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H Am J Transplant 8 216 221 1:STN:280:DC%2BD1c%2FhslCmug%3D%3D 17973958
25. C Loirat M Noris V Fremeaux-Bacchi 2008 Complement and the atypical hemolytic uremic syndrome in children Pediatr Nephrol 23 1957 1972 10.1007/s00467-008-0872-4 18594873