Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland

Kidney International

Volumn 92, Issue 5, 2017, Pages 1261-1271

  Brocklebank, Vicky ^a   Johnson, Sally ^b   Sheerin, Thomas P ^a   Marks, Stephen D ^c   Gilbert, Rodney D ^d   Tyerman, Kay ^e   Kinoshita, Meredith ^f   Awan, Atif ^f   Kaur, Amrit ^g   Webb, Nicholas ^g   Hegde, Shivaram ^h   Finlay, Eric ^e   Fitzpatrick, Maggie ^e   Walsh, Patrick R ^a   Wong, Edwin K S ^a   Booth, Caroline ⁱ   Kerecuk, Larissa ^j   Salama, Alan D ^k   Almond, Mike ^l   Inward, Carol ^m   Goodship, Timothy H ^a   Sheerin, Neil S ⁿ   Marchbank, Kevin J ⁿ   Kavanagh, David ^a   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b Newcastle Upon Tyne Hospitals NHS Foundation Trust   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^e LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^f CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^g ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^h UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

ⁱ GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^j BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^k ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

^l SOUTHEND UNIVERSITY HOSPITAL   (United Kingdom)

^m BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

ⁿ NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

acute kidney injury; atypical hemolytic uremic syndrome; complement; factor H autoantibodies; thrombotic microangiopathy

Indexed keywords

AUTOANTIBODY; COMPLEMENT FACTOR H; ECULIZUMAB; FACTOR H ANTIBODY; UNCLASSIFIED DRUG; COMPLEMENT; COMPLEMENT FACTOR H, HUMAN; MONOCLONAL ANTIBODY;

ADOLESCENT; ANTIBODY TITER; ARTICLE; CFI GENE; CHILD; CLINICAL FEATURE; COMORBIDITY; DISEASE ASSOCIATION; DRUG RESPONSE; FEMALE; GENE; GENE MUTATION; GENETIC VARIATION; HEMOLYTIC UREMIC SYNDROME; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; IRELAND; KIDNEY FAILURE; KIDNEY FUNCTION; KIDNEY TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; PLASMA EXCHANGE; PRIORITY JOURNAL; RELAPSE; REMISSION; RETROSPECTIVE STUDY; UNITED KINGDOM; BLOOD; CHRONIC KIDNEY FAILURE; GENETICS; HEMODIALYSIS; IMMUNOLOGY; INFANT; PRESCHOOL CHILD; PROCEDURES; RECURRENT DISEASE;

ADOLESCENT; ANTIBODIES, MONOCLONAL, HUMANIZED; ATYPICAL HEMOLYTIC UREMIC SYNDROME; AUTOANTIBODIES; CHILD; CHILD, PRESCHOOL; COMPLEMENT FACTOR H; COMPLEMENT SYSTEM PROTEINS; FEMALE; HUMANS; IMMUNOSUPPRESSION; INFANT; IRELAND; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MALE; PLASMA EXCHANGE; RECURRENCE; RENAL DIALYSIS; RETROSPECTIVE STUDIES; UNITED KINGDOM;

EID: 85025842535     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1016/j.kint.2017.04.028     Document Type: Article

References (53)

1. Kavanagh, D., Goodship, T.H., Richards, A., Atypical hemolytic uremic syndrome. Semin Nephrol 33 (2013), 508–530.
2. Sheerin, N.S., Kavanagh, D., Goodship, T.H., et al. A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience. QJM 109 (2016), 27–33.
3. Dragon-Durey, M.A., Loirat, C., Cloarec, S., et al. Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 16 (2005), 555–563.
4. Kavanagh, D., Pappworth, I.Y., Anderson, H., et al. Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?. Clin J Am Soc Nephrol 7 (2012), 417–426.
5. Durey, M.D., Sinha, A., Togarsimalemath, S.K., et al. Anti-complement-factor H-associated glomerulopathies. Nat Rev Nephrol, 2016.
6. Sinha, A., Gulati, A., Saini, S., et al. Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children. Kidney Int 85 (2014), 1151–1160.
7. Jozsi, M., Strobel, S., Dahse, H.M., et al. Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome. Blood 110 (2007), 1516–1518.
8. Strobel, S., Hoyer, P.F., Mache, C.J., et al. Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome. Nephrol Dial Transplantation 25 (2010), 136–144.
9. Moore, I., Strain, L., Pappworth, I., et al. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 115 (2010), 379–387.
10. Nozal, P., Bernabeu-Herrero, M.E., Uzonyi, B., et al. Heterogeneity but individual constancy of epitopes, isotypes and avidity of factor H autoantibodies in atypical hemolytic uremic syndrome. Mol Immunol 70 (2016), 47–55.
11. Bhattacharjee, A., Reuter, S., Trojnar, E., et al. The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease. J Biol Chem 290 (2015), 9500–9510.
12. Blanc, C., Roumenina, L.T., Ashraf, Y., et al. Overall neutralization of complement factor H by autoantibodies in the acute phase of the autoimmune form of atypical hemolytic uremic syndrome. J Immunol 189 (2012), 3528–3537.
13. Dragon-Durey, M.A., Blanc, C., Marliot, F., et al. The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. J Med Genet 46 (2009), 447–450.
14. Jozsi, M., Licht, C., Strobel, S., et al. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood 111 (2008), 1512–1514.
15. Hofer, J., Janecke, A.R., Zimmerhackl, L.B., et al. Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 8 (2013), 407–415.
16. Dragon-Durey, M.A., Blanc, C., Garnier, A., et al. Anti-factor H autoantibody-associated hemolytic uremic syndrome: review of literature of the autoimmune form of HUS. Semin Thromb Hemost 36 (2010), 633–640.
17. Zipfel, P.F., Edey, M., Heinen, S., et al. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet, 3, 2007, e41.
18. Holmes, L.V., Strain, L., Staniforth, S.J., et al. Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32. PloS One, 8, 2013, e60352.
19. Abarrategui-Garrido, C., Martinez-Barricarte, R., Lopez-Trascasa, M., et al. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood 114 (2009), 4261–4271.
20. Loirat, C., Fakhouri, F., Ariceta, G., et al. An international consensus approach to the management of atypical hemolytic uremic syndrome in children. Pediatr Nephrol 31 (2016), 15–39.
21. Watson, R., Lindner, S., Bordereau, P., et al. Standardisation of the factor H autoantibody assay. Immunobiology 219 (2014), 9–16.
22. Dragon-Durey, M.A., Sethi, S.K., Bagga, A., et al. Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome. J Am Soc Nephrol 21 (2010), 2180–2187.
23. Geerdink, L.M., Westra, D., van Wijk, J.A., et al. Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics. Pediatr Nephrol 27 (2012), 1283–1291.
24. Lee, J.M., Park, Y.S., Lee, J.H., et al. Atypical hemolytic uremic syndrome: Korean pediatric series. Pediatr Int 57 (2015), 431–438.
25. Noris, M., Caprioli, J., Bresin, E., et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol 5 (2010), 1844–1859.
26. Bernabeu-Herrero, M.E., Jimenez-Alcazar, M., Anter, J., et al. Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome. Mol Immunol 67 (2015), 276–286.
27. Khandelwal, P., Gupta, A., Sinha, A., et al. Effect of plasma exchange and immunosuppressive medications on antibody titers and outcome in anti-complement factor H antibody-associated hemolytic uremic syndrome. Pediatr Nephrol 30 (2015), 451–457.
28. Sana, G., Dragon-Durey, M.A., Charbit, M., et al. Long-term remission of atypical HUS with anti-factor H antibodies after cyclophosphamide pulses. Pediatr Nephrol 29 (2014), 75–83.
29. Latta, K., von Schnakenburg, C., Ehrich, J.H., A meta-analysis of cytotoxic treatment for frequently relapsing nephrotic syndrome in children. Pediatr Nephrol 16 (2001), 271–282.
30. Guan, N., Liu, X., Yao, Y., et al. [Clinical characteristics of atypical hemolytic uremic syndrome associated with H factor antibody in children]. Zhonghua Er Ke Za Zhi 52 (2014), 223–226.
31. Fakhouri, F., Hourmant, M., Campistol, J.M., et al. Terminal Complement Inhibitor Eculizumab in Adult Patients With Atypical Hemolytic Uremic Syndrome: A Single-Arm, Open-Label Trial. Am J Kidney Dis 68 (2016), 84–93.
32. Greenbaum, L.A., Fila, M., Ardissino, G., et al. Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome. Kidney Int 89 (2016), 701–711.
33. Fakhouri, F., Delmas, Y., Provot, F., et al. Insights from the use in clinical practice of eculizumab in adult patients with atypical hemolytic uremic syndrome affecting the native kidneys: an analysis of 19 cases. Am J Kidney Dis 63 (2014), 40–48.
34. Noone, D., Waters, A., Pluthero, F.G., et al. Successful treatment of DEAP-HUS with eculizumab. Pediatr Nephrol 29 (2014), 841–851.
35. Diamante Chiodini, B., Davin, J.C., Corazza, F., et al. Eculizumab in anti-factor h antibodies associated with atypical hemolytic uremic syndrome. Pediatrics 133 (2014), e1764–e1768.
36. Green, H., Harari, E., Davidovits, M., et al. Atypical HUS due to factor H antibodies in an adult patient successfully treated with eculizumab. Ren Fail 36 (2014), 1119–1121.
37. Hisano, M., Ashida, A., Nakano, E., et al. Autoimmune-type atypical hemolytic uremic syndrome treated with eculizumab as first-line therapy. Pediatr Int 57 (2015), 313–317.
38. Khandelwal, P., Sinha, A., Hari, P., et al. Outcomes of renal transplant in patients with anti-complement factor H antibody-associated hemolytic uremic syndrome. Pediatr Transplant 18 (2014), E134–E139.
39. Hofer, J., Giner, T., Cortina, G., et al. Successful living-related renal transplantation in a patient with factor H antibody-associated atypical hemolytic uremic syndrome. Pediatr Transplant 19 (2015), E121–E125.
40. Hofer, J., Giner, T., Jozsi, M., Complement factor H-antibody-associated hemolytic uremic syndrome: pathogenesis, clinical presentation, and treatment. Semin Thromb Hemost 40 (2014), 431–443.
41. Noris, M., Remuzzi, G., Managing and preventing atypical hemolytic uremic syndrome recurrence after kidney transplantation. Curr Opin Nephrol Hypertens 22 (2013), 704–712.
42. Zuber, J., Le Quintrec, M., Krid, S., et al. Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantation. Am J Transplant 12 (2012), 3337–3354.
43. Waters, A.M., Pappworth, I., Marchbank, K., et al. Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T. Am J Transplant 10 (2010), 168–172.
44. Kim, J.J., McCulloch, M., Marks, S.D., et al. The clinical spectrum of hemolytic uremic syndrome secondary to complement factor H autoantibodies. Clin Nephrol 83 (2015), 49–56.
45. Brocklebank, V., Wong, E.K., Fielding, R., et al. Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri. Clin Kidney J 7 (2014), 286–288.
46. Richards, A., Buddles, M.R., Donne, R.L., et al. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet 68 (2001), 485–490.
47. Kavanagh, D., Kemp, E.J., Mayland, E., et al. Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. J Am Soc Nephrol 16 (2005), 2150–2155.
48. Kavanagh, D., Kemp, E.J., Richards, A., et al. Does complement factor B have a role in the pathogenesis of atypical HUS?. Mol Immunol 43 (2006), 856–859.
49. Richards, A., Kemp, E.J., Liszewski, M.K., 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 100 (2003), 12966–12971.
50. Fremeaux-Bacchi, V., Miller, E.C., Liszewski, M.K., et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 112 (2008), 4948–4952.
51. Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 45 (2013), 531–536.
52. Challis, R.C., Araujo, G.S., Wong, E.K., et al. A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome. J Am Soc Nephrol 27 (2016), 1617–1624.
53. Gleeson, P.J., Wilson, V., Cox, T.E., et al. Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome. Immunobiology 221 (2016), 1124–1130.