Glomerular Diseases Dependent on Complement Activation, Including Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, and C3 Glomerulopathy: Core Curriculum 2015

American Journal of Kidney Diseases

Volumn 66, Issue 2, 2015, Pages 359-375

  Noris, Marina ^a   Remuzzi, Giuseppe ^a,b  

^a MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

^b Azienda Ospedaliera Papa Giovanni XXIII   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; AUTOANTIBODY; CLASSICAL COMPLEMENT PATHWAY C3 C5 CONVERTASE; COBALAMIN; COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C3A; COMPLEMENT COMPONENT C3B; COMPLEMENT COMPONENT C4B; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; DIACYLGLYCEROL KINASE; MEMBRANE COFACTOR PROTEIN; THROMBIN ACTIVATABLE FIBRINOLYSIS INHIBITOR; THROMBOMODULIN; COMPLEMENT;

ANTIGEN ANTIBODY COMPLEX; C3 GLOMERULOPATHY; COMPLEMENT ACTIVATION; CURRICULUM; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GLOMERULOPATHY; GLOMERULUS CAPILLARY; HEMOLYTIC UREMIC SYNDROME; HISTOLOGY; HUMAN; HYBRID GENE; KIDNEY TRANSPLANTATION; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; NONHUMAN; NOTE; ONSET AGE; PENETRANCE; THROMBOTIC THROMBOCYTOPENIC PURPURA; VITAMIN DEFICIENCY; ANCA ASSOCIATED VASCULITIS; IMMUNOLOGY; KIDNEY DISEASE; LUPUS ERYTHEMATOSUS NEPHRITIS; MEMBRANOUS GLOMERULONEPHRITIS;

ANTI-NEUTROPHIL CYTOPLASMIC ANTIBODY-ASSOCIATED VASCULITIS; ATYPICAL HEMOLYTIC UREMIC SYNDROME; COMPLEMENT ACTIVATION; COMPLEMENT SYSTEM PROTEINS; GLOMERULONEPHRITIS, MEMBRANOPROLIFERATIVE; GLOMERULONEPHRITIS, MEMBRANOUS; HUMANS; KIDNEY DISEASES; LUPUS NEPHRITIS;

EID: 84937974621     PISSN: 02726386     EISSN: 15236838     Source Type: Journal    
DOI: 10.1053/j.ajkd.2015.03.040     Document Type: Article

References (79)

1. Nangaku M. Complement regulatory proteins in glomerular diseases. Kidney Int. 1998;54(5):1419-1428.
2. Ricklin D, Hajishengallis G, Yang K, et al. Complement: a key system for immune surveillance and homeostasis. Nat Immunol. 2010;11(9):785-797.
3. Thurman JM. Complement in kidney disease: core curriculum 2015. Am J Kidney Dis. 2015;65(1):156-168.
4. Vieyra MB, Heeger PS. Novel aspects of complement in kidney injury. Kidney Int. 2010;77(6):495-499.
5. Noris M, Remuzzi G. Overview of complement activation and regulation. Semin Nephrol. 2013;33(6):479-492.
6. Pickering MC, Cook HT. Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals. Clin Exp Immunol. 2008;151(2):210-230.
7. Thurman JM. Complement in kidney disease: core curriculum 2015. Am J Kidney Dis. 2015;65(1):156-168.
8. Walport MJ. Complement. First of two parts. N Engl J Med. 2001;344(14):1058-1066.
9. Zipfel PF, Skerka C. Complement regulators and inhibitory proteins. Nat Rev Immunol. 2009;9(10):729-740.
10. Campistol JM, Arias M, Ariceta G, et al. An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document. Nefrologia. 2013;33(1):24-45.
11. George JN, Nester CM. Syndromes of thrombotic microangiopathy. N Engl J Med. 2014;371(7):654-666.
12. Kavanagh D, Goodship TH, Richards A. Atypical hemolytic uremic syndrome. Semin Nephrol. 2013;33(6):508-530.
13. Loirat C, Fremeaux-Bacchi V. Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011;6:60.
14. Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(17):1676-1687.
15. Habib R. Pathology of the hemolytic uremic syndrome. In: Kaplan B, Moake J, eds. Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura. New York, NY: Marcel Dekker; 1992:315-353.
16. Mele C, Remuzzi G, Noris M. Hemolytic uremic syndrome. Semin Immunopathol. 2014;36(4):399-420.
17. Bresin E, Rurali E, Caprioli J, et al. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. J Am Soc Nephrol. 2013;24(3):475-486.
18. Bruneau S, Neel M, Roumenina LT, et al. Loss of DGKε induces endothelial cell activation and death independently of complement activation. Blood. 2015;125(6):1038-1046.
19. Caprioli J, Castelletti F, Bucchioni S, et al. Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Hum Mol Genet. 2003;12(24):3385-3395.
20. Delvaeye M, Noris M, De Vriese A, et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(4):345-357.
21. Dragon-Durey MA, Loirat C, Cloarec S, et al. Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16(2):555-563.
22. Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, et al. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. 2004;41(6):e84.
23. Fremeaux-Bacchi V, Miller EC, Liszewski MK, et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood. 2008;112(13):4948-4952.
24. Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, et al. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2007;104(1):240-245.
25. Lemaire M, Fremeaux-Bacchi V, Schaefer F, et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet. 2013;45(5):531-536.
26. Marinozzi MC, Vergoz L, Rybkine T, et al. Complement factor B mutations in atypical hemolytic uremic syndrome, disease-relevant or benign? Blood. 2014;25(9):2053-5065.
27. Noris M, Brioschi S, Caprioli J, et al. Familial haemolytic uraemic syndrome and an MCP mutation. Lancet. 2003;362(9395):1542-1547.
28. Richards A, Kemp EJ, Liszewski MK, et al. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2003;100:12966-12971.
29. Schramm EC, Roumenina LT, Rybkine T, et al. Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome. Blood. 2015;125:2359-2369.
30. Valoti E, Alberti M, Tortajada A, et al. A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor Hdependent complement regulation. J Am Soc Nephrol. 2015;26(1):209-219.
31. Venables JP, Strain L, Routledge D, et al. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med. 2006;3(10):e431.
32. Warwicker P, Goodship TH, Donne RL, et al. Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int. 1998;53(4):836-844.
33. Hattori R, Hamilton KK, McEver RP, Sims PJ. Complement proteins C5b-9 induce secretion of high molecular weight multimers of endothelial von Willebrand factor and translocation of granule membrane protein GMP-140 to the cell surface. J Biol Chem. 1989;264(15):9053-9060.
34. Kerr H, Richards A. Complement-mediated injury and protection of endothelium: lessons from atypical haemolytic uraemic syndrome. Immunobiology. 2012;217(2):195-203.
35. Legendre CM, Licht C, Muus P, et al. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013;368(23):2169-2181.
36. Manuelian T, Hellwage J, Meri S, et al. Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. J Clin Invest. 2003;111(8):1181-1190.
37. Noris M, Galbusera M, Gastoldi S, et al. Dynamics of complement activation in aHUS and how to monitor eculizumab therapy. Blood. 2014;124(11):1715-1726.
38. Roumenina LT, Jablonski M, Hue C, et al. Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome. Blood. 2009;114(13):2837-2845.
39. Saadi S, Holzknecht RA, Patte CP, Stern DM, Platt JL. Complement-mediated regulation of tissue factor activity in endothelium. J Exp Med. 1995;182(6):1807-1814.
40. Sthl AL, Vaziri-Sani F, Heinen S, et al. Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation. Blood. 2008;111(11):5307-5315.
41. Esparza-Gordillo J, Goicoechea de Jorge E, Buil A, et al. 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. 2005;14(5):703-712.
42. Fakhouri F, Roumenina L, Provot F, et al. Pregnancyassociated hemolytic uremic syndrome revisited in the era of complement gene mutations. J Am Soc Nephrol. 2010;21(5):859-867.
43. Noris M, Galbusera M, Gastoldi S, et al. Dynamics of complement activation in aHUS and how to monitor eculizumab therapy. Blood. 2014;124(11):1715-1726.
44. Geraghty MT, Perlman EJ, Martin LS, et al. Cobalamin C defect associated with hemolytic uremic syndrome. J Pediatr. 1992;120(4):934-937.
45. Besbas N, Karpman D, Landau D, et al. A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders. Kidney Int. 2006;70(2):423-431.
46. Doutrelepont JM, Adler M, Willems M, et al. Hepatitis C infection and membranoproliferative glomerulonephritis. Lancet. 1993;341(8840):317.
47. Sethi S, Fervenza FC. Membranoproliferative glomerulonephritis: pathogenetic heterogeneity and proposal for a new classification. Semin Nephrol. 2011;31(4):341-348.
48. Anders D, Thoenes W. Basement membrane-changes in membranoproliferative glomerulonephritis: a light and electron microscopic study. Virchows Arch A Pathol Anat Histol. 1975;369(2):87-109.
49. Barbour TD, Pickering MC, Terence Cook H. Dense deposit disease and C3 glomerulopathy. Semin Nephrol. 2013;33(6):493-507.
50. Cook HT, Pickering MC. Histopathology of MPGN and C3 glomerulopathies. Nat Rev Nephrol. 2015;11(1):14-22.
51. Hou J, Markowitz GS, Bomback AS, et al. Toward a working definition of C3 glomerulopathy by immunofluorescence. Kidney Int. 2014;85(2):450-456.
52. Pickering MC, DAgati VD, Nester CM, et al. C3 glomerulopathy: consensus report. Kidney Int. 2013;84(6):1079-1089.
53. Sethi S, Fervenza FC. Membranoproliferative glomerulonephritis- a new look at an old entity. N Engl J Med. 2012;366(12):1119-1131.
54. Jokiranta TS, Solomon A, Pangburn MK, et al. Nephritogenic lambda light chain dimer: a unique human miniautoantibody against complement factor H. J Immunol. 1999;163(8):4590-4596.
55. Sethi S, Nester CM, Smith R. Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion. Kidney Int. 2012;81(2):434-441.
56. Sethi S, Zand L, Leung N, et al. Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy. Clin J Am Soc Nephrol. 2010;5(3):770-782.
57. Bogdanovi-c RM, Dimitrijevi-c JZ, Nikoli-c VN, Ognjanovi-c MV, Rodi-c BD, Slavkovi-c BV. Membranoproliferative glomerulonephritis in two siblings: report and literature review. Pediatr Nephrol. 2000;14(5):400-405.
58. Chen Q, Muller D, Rudolph B, et al. Combined C3b and factor B autoantibodies and MPGN type II. N Engl J Med. 2011;365(24):2340-2342.
59. Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C, et al. Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol. 2004;15(3):787-795.
60. Habbig S, Mihatsch MJ, Heinen S, et al. C3 deposition glomerulopathy due to a functional factor H defect. Kidney Int. 2009;75(11):1230-1234.
61. Martinez-Barricarte R, Heurich M, Valdes-Canedo F, et al. Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. J Clin Invest. 2010;120(10):3702-3712.
62. Neary J, Dorman A, Campbell E, Keogan M, Conlon P. Familial membranoproliferative glomerulonephritis type III. Am J Kidney Dis. 2002;40(1):E1.
63. Paixao-Cavalcante D, Lopez-Trascasa M, Skattum L, et al. Sensitive and specific assays for C3 nephritic factors clarify mechanisms underlying complement dysregulation. Kidney Int. 2012;82(10):1084-1092.
64. Zhang Y, Meyer NC, Wang K, et al. Causes of alternative pathway dysregulation in dense deposit disease. Clin J Am Soc Nephrol. 2012;7(2):265-274.
65. Chen Q, Wiesener M, Eberhardt HU, et al. Complement factor H-related hybrid protein deregulates complement in dense deposit disease. J Clin Invest. 2014;124(1):145-155.
66. Gale DP, de Jorge EG, Cook HT, et al. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet. 2010;376(9743):794-801.
67. Goicoechea de Jorge E, Caesar JJ, Malik TH, et al. Dimerization of complement factor H-related proteins modulates complement activation in vivo. Proc Natl Acad Sci U S A. 2013;110(12):4685-4690.
68. Malik TH, Lavin PJ, Goicoechea de Jorge E, et al. A hybrid CFHR3-1 gene causes familial C3 glomerulopathy. J Am Soc Nephrol. 2012;23(7):1155-1160.
69. Servais A, Noel LH, Roumenina LT, et al. Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. Kidney Int. 2012;82(4):454-464.
70. Tortajada A, Yebenes H, Abarrategui-Garrido C, et al. C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. J Clin Invest. 2013;123(6):2434-2446.
71. Abrera-Abeleda MA, Nishimura C, Frees K, et al. Allelic variants of complement genes associated with dense deposit disease. J Am Soc Nephrol. 2011;22(8):1551-1559.
72. Heurich M, Martinez-Barricarte R, Francis NJ, et al. Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk. Proc Natl Acad Sci U S A. 2011;108(21):8761-8766.
73. Daina E, Noris M, Remuzzi G. Eculizumab in a patient with dense-deposit disease. N Engl J Med. 2012;366(12):1161-1163.
74. Herlitz LC, Bomback AS, Markowitz GS, et al. Pathology after eculizumab in dense deposit disease and C3 GN. J Am Soc Nephrol. 2012;23(7):1229-1237.
75. Nester CM, Smith RJ. Treatment options for C3 glomerulopathy. Curr Opin Nephrol Hypertens. 2013;22(2):231-237.
76. Radhakrishnan S, Lunn A, Kirschfink M, et al. Eculizumab and refractory membranoproliferative glomerulonephritis. N Engl J Med. 2012;366(12):1165-1166.
77. Vivarelli M, Emma F. Treatment of C3 glomerulopathy with complement blockers. Semin Thromb Hemost. 2014;40(4):472-477.
78. Vivarelli M, Pasini A, Emma F. Eculizumab for the treatment of dense-deposit disease. N Engl J Med. 2012;366(12):1163-1165.
79. Noris M, Galbusera M, Gastoldi S, et al. Dynamics of complement activation in aHUS and how to monitor eculizumab therapy. Blood. 2014;124(11):1715-1726.