Atypical Hemolytic Uremic Syndrome

Advances in Pediatrics

Volumn 61, Issue 1, 2014, Pages 335-356

  Greenbaum, Larry A ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Acute kidney injury; Atypical hemolytic uremic syndrome; Complement; Thrombocytopenia

Indexed keywords

ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; DISEASE MANAGEMENT; HEALTH; HUMAN; MORBIDITY; TRENDS;

ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; DISEASE MANAGEMENT; GLOBAL HEALTH; HUMANS; MORBIDITY;

EID: 84904307918     PISSN: 00653101     EISSN: None     Source Type: Book Series    
DOI: 10.1016/j.yapd.2014.04.001     Document Type: Review

References (82)

1. Tarr P.I., Gordon C.A., Chandler W.L. Shiga-toxin-producing Escherichia coli and haemolytic uraemic syndrome. Lancet 2005, 365:1073-1086.
2. 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 2010, 5:1844-1859.
3. Cayci F.S., Cakar N., Hancer V.S., et al. Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation. Pediatr Nephrol 2012, 27:2327-2331.
4. Fakhouri F., Fremeaux-Bacchi V. Thrombotic microangiopathy: eculizumab for atypical haemolytic uraemic syndrome: what next?. Nat Rev Nephrol 2013, 9:495-496.
5. Banerjee R., Hersh A.L., Newland J., et al. Streptococcus pneumoniae-associated hemolytic uremic syndrome among children in North America. Pediatr Infect Dis J 2011, 30:736-739.
6. Sharma A.P., Greenberg C.R., Prasad A.N., et al. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. Pediatr Nephrol 2007, 22:2097-2103.
7. Menni F., Testa S., Guez S., et al. Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria. Pediatr Nephrol 2012, 27:1401-1405.
8. Coppo P., Veyradier A. Thrombotic microangiopathies: towards a pathophysiology-based classification. Cardiovasc Hematol Disord Drug Targets 2009, 9:36-50.
9. Levy G.G., Nichols W.C., Lian E.C., et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001, 413:488-494.
10. Lotta L.A., Garagiola I., Palla R., et al. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat 2010, 31:11-19.
11. Camilleri R.S., Scully M., Thomas M., et al. Aphenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom. JThromb Haemost 2012, 10:1792-1801.
12. Lemaire M., Fremeaux-Bacchi V., Schaefer F., et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 2013, 45:531-536.
13. Bu F., Borsa N., Gianluigi A., et al. Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects. Clin Dev Immunol 2012, 2012:370426.
14. Delvaeye M., Noris M., De Vriese A., et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. NEngl J Med 2009, 361:345-357.
15. Sadler J.E. Thrombomodulin structure and function. Thromb Haemost 1997, 78:392-395.
16. Warwicker P., Goodship T.H., Donne R.L., et al. Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int 1998, 53:836-844.
17. Fremeaux-Bacchi V., Fakhouri F., Garnier A., et al. Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin J Am Soc Nephrol 2013, 8:554-562.
18. Maga T.K., Meyer N.C., Belsha C., et al. Anovel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome. Nephrol Dial Transplant 2011, 26:739-741.
19. Jozsi M., Heinen S., Hartmann A., et al. Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions. JAm Soc Nephrol 2006, 17:170-177.
20. Venables J.P., Strain L., Routledge D., et al. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med 2006, 3:e431.
21. Francis N.J., McNicholas B., Awan A., et al. Anovel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Blood 2012, 119:591-601.
22. Bresin E., Daina E., Noris M., et al. Outcome of renal transplantation in patients with non-Shiga toxin-associated hemolytic uremic syndrome: prognostic significance of genetic background. Clin J Am Soc Nephrol 2006, 1:88-99.
23. Goicoechea de Jorge E., Harris C.L., Esparza-Gordillo J., et al. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci USA 2007, 104:240-245.
24. Tawadrous H., Maga T., Sharma J., et al. Anovel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome. Pediatr Nephrol 2010, 25:947-951.
25. Gilbert R.D., Fowler D.J., Angus E., et al. Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B. Pediatr Nephrol 2013, 28:1315-1318.
26. Dragon-Durey M.A., Loirat C., Cloarec S., et al. Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. JAm Soc Nephrol 2005, 16:555-563.
27. Dragon-Durey M.A., Sethi S.K., Bagga A., et al. Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome. JAm Soc Nephrol 2010, 21:2180-2187.
28. Zipfel P.F., Mache C., Muller D., et al. DEAP-HUS: deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome. Pediatr Nephrol 2010, 25:2009-2019.
29. 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 Transplant 2010, 25:136-144.
30. 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. JImmunol 2012, 189:3528-3537.
31. Le Quintrec M., Zuber J., Noel L.H., et al. Anti-factor H autoantibodies in a fifth renal transplant recipient with atypical hemolytic and uremic syndrome. Am J Transplant 2009, 9:1223-1229.
32. Lee B.H., Kwak S.H., Shin J.I., et al. Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency. Pediatr Res 2009, 66:336-340.
33. Uslu-Gokceoglu A., Dogan C.S., Comak E., et al. Atypical hemolytic uremic syndrome due to factor H autoantibody. Turk J Pediatr 2013, 55:86-89.
34. Jozsi M., Licht C., Strobel S., et al. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood 2008, 111:1512-1514.
35. 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 2009, 114:4261-4271.
36. 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, 14:703-712.
37. Bresin E., Rurali E., Caprioli J., et al. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. JAm Soc Nephrol 2013, 24:475-486.
38. Fritsche L.G., Lauer N., Hartmann A., et al. An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). Hum Mol Genet 2010, 19:4694-4704.
39. Feng S., Eyler S.J., Zhang Y., et al. Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome. Blood 2013, 122:1487-1493.
40. Fitzpatrick M.M., Walters M.D., Trompeter R.S., et al. Atypical (non-diarrhea-associated) hemolytic-uremic syndrome in childhood. JPediatr 1993, 122:532-537.
41. 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 2014, 63:40-48.
42. Koehl B., Boyer O., Biebuyck-Gouge N., et al. Neurological involvement in a child with atypical hemolytic uremic syndrome. Pediatr Nephrol 2010, 25:2539-2542.
43. Gerber A., Karch H., Allerberger F., et al. Clinical course and the role of shiga toxin-producing Escherichia coli infection in the hemolytic-uremic syndrome in pediatric patients, 1997-2000, in Germany and Austria: a prospective study. JInfect Dis 2002, 186:493-500.
44. Licht C., Weyersberg A., Heinen S., et al. Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15. Am J Kidney Dis 2005, 45:415-421.
45. Caprioli J., Noris M., Brioschi S., et al. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 2006, 108:1267-1279.
46. Davin J.C., Buter N., Groothoff J., et al. Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome. Pediatr Nephrol 2009, 24:1757-1760.
47. Ariceta G., Besbas N., Johnson S., et al. Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol 2009, 24:687-696.
48. Remuzzi G., Ruggenenti P., Codazzi D., et al. Combined kidney and liver transplantation for familial haemolytic uraemic syndrome. Lancet 2002, 359:1671-1672.
49. Remuzzi G., Ruggenenti P., Colledan M., et al. Hemolytic uremic syndrome: a fatal outcome after kidney and liver transplantation performed to correct factor h gene mutation. Am J Transplant 2005, 5:1146-1150.
50. Saland J.M., Ruggenenti P., Remuzzi G., et al. Liver-kidney transplantation to cure atypical hemolytic uremic syndrome. JAm Soc Nephrol 2009, 20:940-949.
51. Jalanko H., Peltonen S., Koskinen A., et al. Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H. Am J Transplant 2008, 8:216-221.
52. Saland J.M., Emre S.H., Shneider B.L., et al. Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation. Am J Transplant 2006, 6:1948-1952.
53. Saland J.M., Shneider B.L., Bromberg J.S., et al. Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome. Clin J Am Soc Nephrol 2009, 4:201-206.
54. Le Quintrec M., Zuber J., Moulin B., et al. Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome. Am J Transplant 2013, 13:663-675.
55. Zuber J., Le Quintrec M., Krid S., et al. Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantation. Am J Transplant 2012, 12:3337-3354.
56. Hillmen P., Young N.S., Schubert J., et al. The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. NEngl J Med 2006, 355:1233-1243.
57. Parker C. Eculizumab for paroxysmal nocturnal haemoglobinuria. Lancet 2009, 373:759-767.
58. Gruppo R.A., Rother R.P. Eculizumab for congenital atypical hemolytic-uremic syndrome. NEngl J Med 2009, 360:544-546.
59. Nurnberger J., Philipp T., Witzke O., et al. Eculizumab for atypical hemolytic-uremic syndrome. NEngl J Med 2009, 360:542-544.
60. Chatelet V., Fremeaux-Bacchi V., Lobbedez T., et al. Safety and long-term efficacy of eculizumab in a renal transplant patient with recurrent atypical hemolytic-uremic syndrome. Am J Transplant 2009, 9:2644-2645.
61. Davin J.C., Gracchi V., Bouts A., et al. Maintenance of kidney function following treatment with eculizumab and discontinuation of plasma exchange after a third kidney transplant for atypical hemolytic uremic syndrome associated with a CFH mutation. Am J Kidney Dis 2010, 55:708-711.
62. Larrea C.F., Cofan F., Oppenheimer F., et al. Efficacy of eculizumab in the treatment of recurrent atypical hemolytic-uremic syndrome after renal transplantation. Transplantation 2010, 89:903-904.
63. Zimmerhackl L.B., Hofer J., Cortina G., et al. Prophylactic eculizumab after renal transplantation in atypical hemolytic-uremic syndrome. NEngl J Med 2010, 362:1746-1748.
64. Al-Akash S.I., Almond P.S., Savell V.H., et al. Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation. Pediatr Nephrol 2011, 26:613-619.
65. Lapeyraque A.L., Fremeaux-Bacchi V., Robitaille P. Efficacy of eculizumab in a patient with factor-H-associated atypical hemolytic uremic syndrome. Pediatr Nephrol 2011, 26:621-624.
66. Ariceta G., Arrizabalaga B., Aguirre M., et al. Eculizumab in the treatment of atypical hemolytic uremic syndrome in infants. Am J Kidney Dis 2012, 59:707-710.
67. Krid S., Roumenina L.T., Beury D., et al. Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein. Am J Transplant 2012, 12:1938-1944.
68. Vilalta R., Lara E., Madrid A., et al. Long-term eculizumab improves clinical outcomes in atypical hemolytic uremic syndrome. Pediatr Nephrol 2012, 27:2323-2326.
69. Xie L., Nester C.M., Reed A.I., et al. Tailored eculizumab therapy in the management of complement factor H-mediated atypical hemolytic uremic syndrome in an adult kidney transplant recipient: a case report. Transplant Proc 2012, 44:3037-3040.
70. Besbas N., Gulhan B., Karpman D., et al. Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab. Pediatr Nephrol 2013, 28:155-158.
71. Gulleroglu K., Fidan K., Hancer V.S., et al. Neurologic involvement in atypical hemolytic uremic syndrome and successful treatment with eculizumab. Pediatr Nephrol 2013, 28:827-830.
72. Ohanian M., Cable C., Halka K. Eculizumab safely reverses neurologic impairment and eliminates need for dialysis in severe atypical hemolytic uremic syndrome. Clin Pharmacol 2011, 3:5-12.
73. Legendre C.M., Licht C., Muus P., et al. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. NEngl J Med 2013, 368:2169-2181.
74. Zuber J., Fakhouri F., Roumenina L.T., French Study Group for a HCG/C3G, et al. Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. Nat Rev Nephrol 2012, 8:643-657.
75. Malina M., Gulati A., Bagga A., et al. Peripheral gangrene in children with atypical hemolytic uremic syndrome. Pediatrics 2013, 131:e331-e335.
76. Tschumi S., Gugger M., Bucher B.S., et al. Eculizumab in atypical hemolytic uremic syndrome: long-term clinical course and histological findings. Pediatr Nephrol 2011, 26:2085-2088.
77. Struijk G.H., Bouts A.H., Rijkers G.T., et al. Meningococcal sepsis complicating eculizumab treatment despite prior vaccination. Am J Transplant 2013, 13:819-820.
78. Nester C., Stewart Z., Myers D., et al. Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 2011, 6:1488-1494.
79. Weitz M., Amon O., Bassler D., et al. Prophylactic eculizumab prior to kidney transplantation for atypical hemolytic uremic syndrome. Pediatr Nephrol 2011, 26:1325-1329.
80. Koskinen A.R., Tukiainen E., Arola J., et al. Complement activation during liver transplantation-special emphasis on patients with atypical hemolytic uremic syndrome. Am J Transplant 2011, 11:1885-1895.
81. Madore F., Lazarus J.M., Brady H.R. Therapeutic plasma exchange in renal diseases. JAm Soc Nephrol 1996, 7:367-386.
82. Noris M., Remuzzi G. Genetics and genetic testing in hemolytic uremic syndrome/thrombotic thrombocytopenic purpura. Semin Nephrol 2010, 30:395-408.