Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency

Pediatric Research

Volumn 66, Issue 3, 2009, Pages 336-340

  Lee, Beom Hee ^a   Kwak, Soo Heon ^b   Shin, Jae Il ^c   Lee, So Hee ^a   Choi, Hyun Jin ^a   Kang, Hee Gyung ^a   Ha, Il Soo ^a   Lee, Jae Seung ^c   Dragon Durey, Marie Agnès ^d   Choi, Yong ^a   Cheong, Hae Il ^a  

^a Seoul National University   (South Korea)

^b Gyeonggi Provincial Office   (South Korea)

^c Yonsei University College of Medicine   (South Korea)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; AZATHIOPRINE; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; CORTICOSTEROID; IMMUNOGLOBULIN; MONOCYTE CHEMOTACTIC PROTEIN; CFHR1 PROTEIN, HUMAN; COMPLEMENT; FACTOR H RELATED PROTEIN 3; FACTOR H-RELATED PROTEIN 3; PLASMA PROTEIN;

ANAMNESIS; ARTICLE; CASE REPORT; CFHR1 GENE; CFHR3 GENE; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE DELETION; GENETIC ANALYSIS; HEMOLYTIC UREMIC SYNDROME; HUMAN; LABORATORY TEST; PLASMAPHERESIS; PRIORITY JOURNAL; SCHOOL CHILD; BLOOD; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; METABOLISM;

AUTOANTIBODIES; BLOOD PROTEINS; CHILD; COMPLEMENT C3B INACTIVATOR PROTEINS; COMPLEMENT FACTOR H; COMPLEMENT SYSTEM PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMOLYTIC-UREMIC SYNDROME; HUMANS;

EID: 70350448229     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181b1bd4a     Document Type: Article

References (32)

1. Noris M, Remuzzi G 2005 Hemolytic uremic syndrome. J Am Soc Nephrol 16:1035-1050
2. Kavanagh D, Goodship TH, Richards A 2006 Atypical, haemolytic uraemic syndrome. Br Med Bull 77-78:5-22
3. Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G 2006 Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 108:1267-1279
4. Sellier-Leclerc AL, Frémeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti. C, Loirat C 2007 Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol 18:2392-2400 (Pubitemid 47203855)
5. Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez de Cordoba S 2007 Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci USA 104:240-245 (Pubitemid 46068016)
6. Frémeaux-Bacchi V, Miller EC, Liszewski MK, Strain. L, Blouin J, Brown AL, Moghal. N, Kaplan BS, Weiss RA, Lhotta K, Kapur G, Mattoo T, Nivet H, Wong W, Gie S, Hurault de Ligny B, Fischbach M, Gupta R, Hauhart R, Meunier V, Loirat C, Dragon-Durey MA, Fridman WH, Janssen. BJ, Goodship TH, Atkinson JP 2008 Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 112:4948-4952
7. Neumann. HP, Salzmann M, Bohnert-Iwan B, Mannuelian T, Skerka C, Lenk D, Bender BU, Cybulla M, Riegler P, Konigsrainer A, Neyer U, Bock A, Widmer U, Male DA, Franke G, Zipfel. PF 2003 Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German, speaking countries. J Med Genet 40:676-681 (Pubitemid 37100700)
8. Dragon-Durey MA, Frémeaux-Bacchi V 2005 Atypical haemolytic uraemic syndrome and mutations in complement regulator genes. Springer Semin Immunopathol 27:359-374 (Pubitemid 41639887)
9. Frémeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C, Deng HW, Goodship TH 2005 The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J Med Genet 42:852-856 (Pubitemid 41598193)
10. Esparza-Gordillo J, Goicoechea de Jorge E, Buil A, Carreras Berges L, Lopez-Trascasa M, Sanchez-Corral P, Rodriguez de Cordoba S 2005 Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum Mol Genet 14:703-712 (Pubitemid 40309595)
11. Józsi M, Strobel S, Dahse HM, Liu WS, Hoyer PF, Oppermann M, Skerka C, Zipfel PF 2007 Anti factor H autoantibodies block C-terminal recognition function, of factor H in hemolytic uremic syndrome. Blood 110:1516-1518 (Pubitemid 47443967)
12. Dragon-Durey MA, Loirat C, Cloarec S, Macher MA, Blouin J, Nivet H, Weiss L, Fridman WH, Fremeaux-Bacchi V 2005 Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 16:555-563 (Pubitemid 41725154)
13. Józsi. M, Licht C, Strobel S, Zipfel SL, Richter H, Heinen S, Zipfel PF, Skerka C 2008 Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood 111:1512-1514 (Pubitemid 351213440)
14. Male DA, Ormsby RJ, Ranganathan S, Giannakis E, Gordon DL 2000 Complement factor H: sequence analysis of 221 kb of human genomic DNA. containing the entire fH, fHR-1 and fHR-3 genes. Mol. Immunol. 37:41-52
15. Zipfel PF, Jokiranta TS, Hellwage J, Koistinen V, Meri S 1999 The factor H protein family. Immunopharmacology 42:53-60
16. Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Herman Fridman W, Weiss L 2004 Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranopro-liferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol 15:787-795 (Pubitemid 38294810)
17. Schwartz GJ, Haycock GB, Edelmann CM Jr, Spitzer A 1976 A simple estimate of glomerular filtration rate in children derived from, body length and plasma creatinine. Pediatrics 58:259-263
18. Kristensen T, Tack BF 1986 Murine protein H is comprised of 20 repeating units, 61 amino acids in length. Proc Natl Acad Sci USA 83:3963-3967
19. Atkinson JP, Liszewski MK, Richards A, Kavanagh D, Moulton EA 2005 Hemolytic uremic syndrome: an example of insufficient complement regulation on self-tissue. Ann N Y Acad Sci 1056:144-152 (Pubitemid 43030973)
20. Jokiranta TS, Cheng ZZ, Seeberger H, Jbzsi M, Heinen S, Noris M, Remuzzi G, Ormsby R, Gordon DL, Mari S, Hellwage J, Zipfel PF 2005 Binding of complement factor H to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site. Am J Pathol 167:1173-1181 (Pubitemid 41416267)
21. Hellwage J, Jokiranta TS, Friese MA, Wolk TU, Kampen E, Zipfel PF, Meri S 2002 Complement C3b/C3d and cell surface polyanions are recognized by overlapping binding sites on the most carboxyl-terminal domain of complement factor H. J Immunol 169:6935-6944 (Pubitemid 36899280)
22. Kavanagh D, Richards A, Atkinson J 2008 Complement regulatory genes and hemolytic uremic syndromes. Annu Rev Med 59:293-309 (Pubitemid 351287939)
23. Józsi M, Heinen S, Hartmann A, Ostrowicz CW, Halbich S, Richter H, Kunert A, Licht C, Saunders RE, Perkins SJ, Zipfel PF, Skerka C 2006 Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural, changes and defective recognition functions. J Am Soc Nephrol 17:170-177
24. Vaziri-Sani F, Holmberg L, Sjöholm AG, Kristoffersson AC, Manea M, Fremeaux-Bacchi V, Fehrman-Ekholm I, Raafat R, Karpman D 2006 Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. Kidney Int 69:981-988 (Pubitemid 43372172)
25. Manuelian T, Hellwage J, Meri S, Caprioli J, Noris M, Heinen S, Jozsi M, Neumann HP, Remuzzi G, Zipfel PF 2003 Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. J Clin Invest 111:1181-1190 (Pubitemid 36519935)
26. Lupski JR, Stankiewicz P 2005 Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet l:e49
27. Heinen, S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, Skerka C, Jokiranta TS, Meyers K, Wagner E, Robitaille P, Esparza-Gordillo J, Rodriguez de Cordoba S, Zipfel PF, Goodship TH 2006 De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Hum Mutat 27:292-293
28. Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwickcr P, DiazTorres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH 2006 Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med 3:e431
29. Zipfel PF, Edey M, Heinen. S, Józsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C 2007 Deletion, of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet 3:e41
30. Coppo P, Bengoufa D, Veyradier A, Wolf M, Bussel A, Millot GA, Malot S, Heshmati F, Mira JP, Boulanger E, Galicier L, Durey-Dragon MA, Fremeaux-Bacchi V, Ramakers M, Pruna A, Bordessoule D, Gouilleux V, Scrobohaci ML, Vernant JP, Moreau D, Azoulay E, Schlemmer B, Guillevin L, Lassoued K 2004 Severe ADAMTS13 deficiency in adult idiopathic thrombotic microangiopathies defines a subset, of patients characterized by various autoimmune manifestations, lower platelet count, and mild renal involvement. Medicine (Baltimore) 83:233-244 (Pubitemid 38955446)
31. Kwon T, Dragon-Durey M-A, Macher M-A, Baudouin V, Maisin A, Peuchmaur M, Fremeaux-Bacchi V, Loirat C 2008 Successful pre-transplant management of a patient with anti-factor H autoantibodies-associated haemolytic uraemic syndrome. Nephrol Dial Transplant 23:2088-2090 (Pubitemid 351768178)
32. Le Quintrec M, Zuber J, Noel LH, Thervet E, Frémeaux-Bacchi V, Fridman WH, Legendre C, Dragon-Durey MA 2009 Anti-factor H-auto-antibodies in a fifth renal transplant recipient with atypical hemolytic and uremic syndrome. Am J Transplant 9:1223-1229