Thrombotic microangiopathies

Seminars in Arthritis and Rheumatism

Volumn 43, Issue 6, 2014, Pages 797-805

  Rosove, Michael H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Complement dysregulation; Eculizumab; Hemolytic uremic syndrome; Shiga toxin; Thrombotic microangiopathy; Thrombotic thrombocytopenic purpura

Indexed keywords

CLOPIDOGREL; CYCLOSPORIN; ECULIZUMAB; EVEROLIMUS; GEMCITABINE; MITOMYCIN; QUININE; RAPAMYCIN; TACROLIMUS; TICLOPIDINE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE; ADAM PROTEIN; ADAMTS13 PROTEIN, HUMAN; MONOCLONAL ANTIBODY; SHIGA TOXIN;

ACQUIRED THROMBOTIC THROMBOCYTOPENIC PURPURA; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ANTIGEN ANTIBODY COMPLEX; ARTICLE; CLINICAL FEATURE; COMPLEMENT ALTERNATIVE PATHWAY; DISEASE SEVERITY; DRUG COST; ENDOTHELIUM INJURY; EXCHANGE BLOOD TRANSFUSION; HEMOLYTIC UREMIC SYNDROME; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; KIDNEY TRANSPLANTATION; LUNG TRANSPLANTATION; MALIGNANT NEOPLASTIC DISEASE; MUTATION; PATHOPHYSIOLOGY; PLASMA TRANSFUSION; PLASMAPHERESIS; PRACTICE GUIDELINE; PREGNANCY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REGISTER; SHIGA TOXIN INDUCED HEMOLYTIC UREMIC SYNDROME; THROMBOTIC THROMBOCYTOPENIC PURPURA; UPSHAW SCHULMAN SYNDROME; ATYPICAL HEMOLYTIC UREMIC SYNDROME; HEMOLYTIC-UREMIC SYNDROME; IMMUNOLOGY; METABOLISM; PURPURA, THROMBOTIC THROMBOCYTOPENIC; THROMBOTIC MICROANGIOPATHIES;

ADAM PROTEINS; ANTIBODIES, MONOCLONAL, HUMANIZED; ATYPICAL HEMOLYTIC UREMIC SYNDROME; HEMOLYTIC-UREMIC SYNDROME; HUMANS; PURPURA, THROMBOTIC THROMBOCYTOPENIC; SHIGA TOXIN; THROMBOTIC MICROANGIOPATHIES;

EID: 84902544358     PISSN: 00490172     EISSN: 1532866X     Source Type: Journal    
DOI: 10.1016/j.semarthrit.2013.11.004     Document Type: Article

References (147)

1. Terrell D.R., Williams L.A., Vesely S.K., Lämmle B., Hovinga J.A., George J.N. The incidence of thrombotic thrombocytopenic purpura-hemolytic uremic syndrome: all patients, idiopathic patients, and patients with severe ADAMTS-13 deficiency. J Thromb Haemost 2005, 3:1432-1436.
2. George J.N. The association of pregnancy with thrombotic thrombocytopenic purpura-hemolytic uremic syndrome. Curr Opin Hematol 2003, 10:339-344.
3. Kremer Hovinga J.A., Vesely S.K., Terrell D.R., Lämmle B., George J.N. Survival and relapse in patients with thrombotic thrombocytopenic purpura. Blood 2010, 115:1500-1511.
4. Kennedy A.S., Lewis Q.F., Scott J.G., Kremer Hovinga J.A., Lämmle B., Terrell D.R., et al. Cognitive deficits after recovery from thrombotic thrombocytopenic purpura. Transfusion 2009, 49:1092-1101.
5. Deford C.C., Reese J.A., Schwartz L.H., Perdue J.J., Kremer Hovinga J.A., Lämmle B., et al. Multiple major morbidities and increased mortality during long-term follow-up after recovery from thrombotic thrombocytopenic purpura. Blood 2013, 122:2023-2029.
6. Siami K., Kojouri K., Swisher K.K., Selby G.B., George J.N., Laszik Z.G. Hematopoietic stem cell transplantation: an autopsy study. Transplantation 2008, 85:22-28.
7. Terrell D.R., Motto D.G., Kremer Hovinga J.A., Lämmle B., George J.N., Vesely S.K. Blood group O and black race are independent risk factors for thrombotic thrombocytopenic purpura associated with severe ADAMTS13 deficiency. Transfusion 2011, 51:2237-2243.
8. Swisher K.K., Terrell D.R., Vesely S.K., Kremer Hovinga J.A., Lämmle B., George J.N. Clinical outcomes after platelet transfusions in patients with thrombotic thrombocytopenic purpura. Transfusion 2009, 49:873-887.
9. Sellier-Leclerc A.L., Fremeaux-Bacchi V., Dragon-Durey M.A., Macher M.A., Niaudet P., Guest G., et al. Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol 2007, 18:2392-2400.
10. Caprioli J., Noris M., Brioschi S., Pianetti G., Castelletti F., Bettinaglio P., 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.
11. Loirat C., Noris M., Fremeaux-Bacchi V. Complement and the atypical hemolytic uremic syndrome in children. Pediatr Nephrol 2008, 23:1957-1972.
12. Taylor C.M., Machin S., Wigmore S.J., Goodship T.H.J. Clinical practice guidelines for the management of atypical haemolytic uremic syndrome in the United Kingdom. Br J Haematol 2009, 148:37-47.
13. Mansouri Taleghani M., von Krogh A.-S., Fujimura Y., George J.N., Hrachovinova I., Knöbl P.N., et al. Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry. Hämostaseologie 2013, 2:138-143.
14. Noris M., Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med 2009, 361:1676-1687.
15. Noris M., Caprioli J., Bresin E., Mossali C., Pianetti G., Gamba S., 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.
16. Kielstein J.T., Beutel G., Fleig S., Steinhoff J., Meyer T.N., Hafer C., et al. Best supportive care and therapeutic plasma exchange with or without eculizumab in Shiga-toxin-producing E. coli O104:H4 induced haemolytic-uraemic syndrome: an analysis of the German STEC-HUS Registry. Nephrol Dial Transplant 2012, 27:3807-3815.
17. Menne J., Nitschke M., Stingele R., Abu-Tair M., Beneke J., Bramstedt J., et al. Validation of treatment strategies for enterohaemorrhagic Escherichia coli O104:H4 induced haemolytic uraemic syndrome: case-control study. Br Med J 2012, 345:e4565.
18. Zuber J., Fakhouri F., Roumenina L.T., Loirat C., Frémeaux-Bacchi V. Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. Nat. Rev. Nephrol 2012, 8:643-657.
19. Moher D., Liberati A., Tetzlaff J., Altman D.G. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Ann Intern Med 2009, 151:264-269. PRISMA Group.
20. Moschcowitz E. Hyaline thrombosis of the terminal arterioles and capillaries: a hitherto undescribed disease. Proc N Y Pathol Soc 1924, 24:21-24.
21. Amorosi E.L., Ultmann J.E. Thrombotic thrombocytopenic purpura: report of 16 cases and review of the literature. Medicine 1966, 45:130-159.
22. Berkowitz L.R., Dalldorf F.G., Blatt P.M. Thrombotic thrombocytopenic purpura: a pathology review. J Am Med Assoc 1979, 241:1709-1710.
23. Noris M., Remuzzi G. Hemolytic uremic syndrome. J Am Soc Nephrol 2005, 16:1035-1050.
24. Monto T.N., Monto R.W. Pathology of the cardiac conduction system in thrombotic thrombocytopenic purpura. Ann Intern Med 1966, 65:37-43.
25. Ridolfi R.L., Hutchins G.M., Bell W.R. The heart and cardiac conduction system in thrombotic thrombocytopenic purpura. Ann Intern Med 1979, 91:357-363.
26. Hawkins B.M., Abu-Fadel M., Vesely S.K., George J.N. Clinical cardiac involvement in thrombotic thrombocytopenic purpura. Transfusion 2007, 48:382-392.
27. George J.N. How I treat patients with thrombotic thrombocytopenic purpura-hemolytic uremic syndrome. Blood 2010, 116:4060-4069.
28. Scully M., Hunt B.J., Benjamin S., Liesner R., Rose P., Peyvandi F., et al. Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies. Br J Haematol 2012, 158:323-335.
29. Bone R.G., Henry J.E., Petterson J., Amare M. Respiratory dysfunction in thrombotic thrombocytopenic purpura. Am J Med 1978, 65:262-270.
30. Douglas K.W., Pollock K.G., Young D., Catlow J., Green R. Infection frequently triggers thrombotic microangiopathy in patients with preexisting risk factors: a single-institution experience. J Clin Apher 2010, 25:47-53.
31. Bell W.R., Braine H.G., Ness P.M., Kickler T.S. Improved survival in thrombotic thrombocytopenia purpura-hemolytic uremic syndrome-clinical experience in 108 patients. N Engl J Med 1991, 325:398-403.
32. Upshaw J.D. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med 1978, 298:1350-1352.
33. OMIM No. 274150; http://www.ncbi.nlm.nih.gov/omim.
34. Camilleri R.S., Scully J., Thomas M., Mackie I.J., Liesner R., Chen W.J., et al. A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom. J Thromb Haemost 2012, 10:1792-1801.
35. Peyvandi F., Palla R., Lotta L.A., Mackie I., Scully M.A., Machin S.J. ADAMTS-13 assays in thrombotic thrombocytopenic purpura. J Thromb Haemost 2010, 8:631-640.
36. Gasser C., Gautier E., Steck A., Siebenmann R.E., Oechslin R. Hemolytic-uremic syndrome: bilateral necrosis of the renal cortex in acute acquired hemolytic anemia. Schweiz Med Wochenschr 1955, 85:905-909. [translated from German].
37. Frank C., Werber D., Cramer J.P., Askar M., Faber M., an der Heiden M., et al. Epidemic profile of Shiga-toxin-producing Escherichia coli O104:H4 outbreak in Germany. N Engl J Med 2011, 365:1771-1780.
38. King L.A., Nogareda F., Weill F.-X., Mariani-Kurkdjian P.M., Loukiadis E., Gault G., et al. Outbreak of Shiga toxin-producing Escherichia coli O104:H4 associated with organic fenugreek sprouts, France, June 2011. Clin Infect Dis 2012, 54:1588-1594.
39. Karmali M.A., Petric M., Steele B.T., Lim C. Sporadic cases of haemolytic-uraemic syndrome associated with faecal cytotoxin and cytotoxin-producing Escherichia coli in stools. Lancet 1983, 1:619-620.
40. Koster F., Levin J., Walker L., Tung K.S., Gilman R.H., Rahaman M.M., et al. Hemolytic-uremic syndrome after shigellosis. N Engl J Med 1978, 298:927-933.
41. Tsukahara H., Havashi S., Nakamura K., Nomura Y., Yoshimoto M., Fujisawa S. Haemolytic uraemic syndrome associated with Yersinia enterocolitica infection. Pediatr Nephrol 1988, 2:309-311.
42. Rangel J.M., Sparling P.H., Crowe C., Griffin P.M., Swerdlow D.L. Epidemiology of Escherichia coli O157:H7 outbreaks, United States, 1982-2002. Emerg Infect Dis 2005, 11:603-609.
43. Kavanagh D., Goodship T.H.J. Haemolytic uraemic syndrome. Horizons in medicine 2006, 207-211. Royal College of Physicians, London.
44. Loos S., Ahlenstiel T., Kranz B., Staude H., Pape L., Härtel C., et al. An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children. Clin Infect Dis 2012, 55:753-759.
45. Liszewski M.K., Atkinson J.P. Too much of a good thing at the site of tissue injury: the instructive example of the complement system predisposing to thrombotic microangiopathy. Hematology 2011 2011, 9-14. American Society of Hematology, Washington, D.C.
46. Sallée M., Daniel L., Piercecchi M.-D., Jaubert D., Fremeaux-Bacchi V., Berland Y., et al. Myocardial infarction is a complication of factor H-associated atypical HUS. Nephrol Dial Transplant 2010, 25:2028-2032.
47. Loirat C., Macher M.-A., Elmaleh-Berges M., Kwon T., Deschênes G., Goodship T.H.J., et al. Non-atheromatous arterial stenoses in atypical haemolytic uraemic syndrome associated with complement dysregulation. Nephrol Dial Transplant 2010, 25:3421-3425.
48. Cuttner J. Thrombotic thrombocytopenic purpura: a ten-year experience. Blood 1980, 56:302-306.
49. Jacob S., Dunn B.L., Qureshi Z.P., Bandarenko N., Kwaan J.C., Pandey D.K., et al. Ticlopidine-, clopidogrel-, and prasugrel-associated thrombotic thrombocytopenic purpura: a 20-year review from the Southern Network on Adverse Reactions (SONAR). Semin Thromb Hemost 2012, 38:845-853.
50. Bennett C.L., Kim B., Zakarija A., Bandarenko N., Pandey D.K., Buffie C.G., et al. Two mechanistic pathways for thienopyridine-associated thrombotic thrombocytopenic purpura: a report from the SERF-TTP Research Group and the RADAR Project. J Am Coll Cardiol 2007, 50:1138-1143.
51. Reynolds J.C., Agodoa L.Y., Yuan C.M., Abbott K.C. Thrombotic microangiopathy after renal transplantation in the United States. Am J Kidney Dis 2003, 42:1058-1068.
52. Cutler C., Henry N.L., Magee C., Li S., Kim H.T., Alyea E., et al. Sirolimus and thrombotic microangiopathy after allogeneic hematopoietic stem cell transplantation. Biol Blood Marrow Transplant 2005, 11:551-557.
53. Yilmaz V.T., Koçak H. Thrombotic thrombocytopenic purpura associated with everolimus use in a renal transplant patient. Int Urol Nephrol 2011, 43:581-584.
54. El-Ghazal R., Podoltsev N., Marks P., Chu E., Saif M.W. Mitomycin-C-induced thrombotic thrombocytopenia purpura/hemolytic uremic syndrome: cumulative toxicity of an old drug in a new era. Clin. Colorectal Cancer 2011, 10:142-145.
55. Izzedine H., Isnard-Bagnis C., Launay-Vacher V., Mercadal L., Tostivint I., Rixe O., et al. Gemcitabine-induced thrombotic microangiopathy: a systematic review. Nephrol Dial Transplant 2006, 21:3038-3045.
56. Zupancic M., Shah P.C., Shah-Khan F. Gemcitabine-associated thrombotic thrombocytopenic purpura. Lancet Oncol 2007, 8:634-641.
57. Caires R.A., Marques I.D.B., Repizo L.P., Sato V.A.H., Carkmo L.P.F., Machado D.J.B., et al. De novo thrombotic microangiopathy after kidney transplantation: clinical features, treatment, and long-term patient and graft survival. Transplant. Proc 2012, 44:2388-2390.
58. Hachem R.R., Yesen R.D., Chakinala M.M., Aloush A.A., Patterson G.A., Trulock E.P. Thrombotic microangiopathy after lung transplantation. Transplantation 2006, 81:57-63.
59. Uderzo C., Bonanomi S., Busca A., Renoldi M., Ferrari P., Iacobelli M., et al. Microangiopathy after allogeneic hematopoietic stem cell transplantation. Transplantation 2006, 82:638-644.
60. Shayani S., Palmer J., Stiller T., Liu X., Thomas S.H., Khuu T., et al. Thrombotic microangiopathy associated with sirolimus level after allogeneic hematopoietic cell transplantation with tacrolimus/sirolimus-based graft-versus-host-disease prophylaxis. Biol Blood Marrow Transplant 2013, 19:298-304.
61. Rosove M.H. Hematologic complications of cancer and its treatment. Cancer medicine 1984, 864-879. W.B. Saunders Co., Philadelphia. 2nd ed. C.M. Haskell (Ed.).
62. Zimmerman T.S., Ruggeri Z.M. von Willebrand's disease. Progress in hemostasis and thrombosis, vol. 6 1982, 203-236. Grune & Stratton, New York. T.H. Spaet (Ed.).
63. Sadler J.E. von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura. Blood 2008, 112:11-17.
64. Bowen D.J., Collins P.W. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood 2004, 103:941-947.
65. Gill J.C., Endres-Brooks J., Bauer P.J., Marks W.J., Montgomery R.R. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987, 69:1691-1695.
66. Battle J., Lopez-Fernandez M.F., Lopez-Borrasca A., Lopez-Berges C., Dent J.A., Berkowitz S.D., et al. Proteolytic degradation of von Willebrand factor after DDAVP administration in normal individuals. Blood 1987, 70:173.
67. Moake J.L., Turner N.A., Stathopoulos N.A., Nolasco L.H., Hellums J.D. Involvement of large plasma von Willebrand factor (vWF) multimers and unusually large vWF forms derived from endothelial cells in shear stress-induced platelet aggregation. J Clin Invest 1986, 78:1456-1461.
68. 2, and theophylline on the response of platelets subjected shear stress. Blood 1981, 58:678-681.
69. Sadler J.E., Budde U., Eikenboom J.C.J., Favaloro E.J., Hill F.G.H., Holmberg L., et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006, 4:2103-2114.
70. Jilma-Stohlawetz P., Knöbl P., Gilbert J.C., Jilma B. The anti-von Willebrand factor aptamer ARC1779 increases von Willebrand factor levels and platelet counts in patients with type 2B von Willebrand disease. Thromb Haemost 2012, 108:284-290.
71. Moake J.L., Rudy C.K., Troll J.H., Weinstein M.J., Colannino N.M., Azocar J., et al. Unusually large plasma factor VIII: von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med 1982, 307:1432-1435.
72. Tsai H.-M. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 1996, 87:4235-4244.
73. Furlan M., Robles R., Lämmle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 1996, 87:4223-4234.
74. Levy G.G., Motto D.G., Ginsburg D. ADAMTS13 turns 3. Blood 2005, 106:11-17.
75. Turner N., Nolasco L., Tao Z., Dong J.F., Moake J. Human endothelial cells synthesize and release ADAMTS-13. J Thromb Haemost 2006, 4:1396-1404.
76. Furlan M., Lämmle B. Deficiency of von Willebrand factor-cleaving protease in familial and acquired thrombotic thrombocytopenic purpura. Baillieres Clin Haematol 1998, 11:509-514.
77. Froelich-Zahnd R., George J.N., Vesely S.K., Terrell D.R., Aboulfatova K., Dong J.F., et al. Evidence for a role of anti-ADAMTS13 autoantibodies despite normal ADAMTS13 activity in recurrent thrombotic thrombocytopenic purpura. Haematologica 2012, 97:297-303.
78. Muia J., Gao W., Haberichter S.L., Dolatshahi L., Zhu J., Westfield L.A., et al. An optimized fluorogenic ADAMTS13 assay with increased sensitivity for the investigation of patients with thrombotic thrombocytopenic purpura. J Thromb Haemost 2013, 11:1511-1518.
79. Mannucci P.M., Canciani M.T., Forza I., Lussana F., Lattuada A., Rossi E. Changes in health and disease of the metalloprotease that cleaves von Willebrand factor. Blood 2001, 98:2730-2735.
80. Reiter R.A., Knöbl P., Varadi K., Turecek P.L. Changes in von Willebrand factor-cleaving protease (ADAMTS13) activity after infusion of desmopressin. Blood 2003, 101:946-948.
81. Vesely S.K., George J.N., Lämmle B., Studt J.-D., Alberio L., El-Harake M.A., et al. ADAMTS13 activity in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome: relation to presenting features and clinical outcomes in a prospective cohort of 142 patients. Blood 2003, 102:60-68.
82. Zheng X.L., Kaufman R.M., Goodnough L.T., Sadler J.E. Effect of plasma exchange on plasma ADAMTS13 metalloprotease activity, inhibitor level, and clinical outcome in patients with idiopathic and non-idiopathic thrombotic thrombocytopenic purpura. Blood 2004, 103:4043-4049.
83. Klaus C., Plaimauer B., Studt J.D., Dorner F., Lämmle B., Mannucci P.M., et al. Epitope mapping of ADAMTS13 autoantibodies in acquired thrombotic thrombocytopenic purpura. Blood 2004, 103:4514-4519.
84. Ferrari S., Scheiflinger F., Rieger M., Mudde G., Wolf M., Coppo P., et al. Prognostic value of anti-ADAMTS 13 antibody features (Ig isotype, titer, and inhibitory effect) in a cohort of 35 adult French patients undergoing a first episode of thrombotic microangiopathy with undetectable ADAMTS 13 activity. Blood 2007, 109:2815-2822.
85. Scully M., Cohen H., Cavenagh J., Benjamin S., Starke R., Killick S., et al. Remission in acute refractory and relapsing thrombotic thrombocytopenic purpura following rituximab is associated with a reduction in IgG antibodies to ADAMTS-13. Br J Haematol 2007, 136:451-461.
86. Rick M.E., Austin H., Leitman S.F., Krizek D.M., Aronson D.L. Clinical usefulness of a functional assay for the von Willebrand factor cleaving protease (ADAMTS 13) and its inhibitor in a patient with thrombotic thrombocytopenic purpura. Am J Hematol 2004, 75:96-100.
87. Fujisaki K., Masutani K., Yoshimitsu T., Nakanishi K., Matsumoto M., Yagi H., et al. Thrombotic thrombocytopenic purpura associated with polyarteritis nodosa. Clin Nephrol 2005, 64:305-310.
88. Peyvandi F., Lavoretano S., Pall R., Feys H.B., Vanhoorelbeke K., Battaglioli T., et al. ADAMTS13 and anti-ADAMTS13 antibodies are markers for recurrence of acquired thrombotic thrombocytopenic purpura during remission. Haematologica 2008, 93:69-76.
89. Zuberi L., Yerasuri D., Kuriakose P. Effect of blood group on idiopathic thrombotic thrombocytopenic purpura. J Clin Apher 2009, 24:131-133.
90. Staropoli J.F., Stowell C.P., Tuncer H.H., Marques M.B. An inquiry into the relationship between ABO blood group and thrombotic thrombocytopenic purpura. Vox Sang 2009, 96:344-348.
91. Lotta L.A., Garagiola I., Palla R., Cairo A., Peyvandi F. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat 2010, 31:11-19.
92. Lotta L.A., Wu H.M., Mackie I.J., Noris M., Veyradier A., Scully M.A., et al. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood 2012, 120:440-448.
93. Furlan M., Robles R., Galbusera M., Remuzzi G., Kyrle P.A., Brenner B., et al. von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med 1998, 339:1578-1584.
94. Lattuada A., Rossi E., Calzarossa C., Candolfi R., Mannucci P.M. Mild to moderate reduction of a von Willebrand factor cleaving protease (ADAMTS-13) in pregnant women with HELLP microangiopathic syndrome. Haematologica 2003, 88:1029-1034.
95. Park Y.A., Hay S.N., King K.E., Matevosyan K., Poisson J., Powers A., et al. Is it quinine TTP/HUS or quinine TMA? ADAMTS13 levels and implications for therapy. J Clin Apher 2009, 24:115-119.
96. Pham P.T., Danovitch G.M., Wilkinson A.H., Gritsch H.A., Pham P.C., Eric T.M., et al. Inhibitors of ADAMTS13: a potential factor in the cause of thrombotic microangiopathy in a renal allograft recipient. Transplantation 2002, 74:1077-1080.
97. Adachi T., Matsushita T., Ichihashi R., Hirashima K., Ito M., Inuki M., et al. High titer of ADAMTS13 inhibitor associated with thrombotic microangiopathy of the gut and skeletal muscle after allogeneic hematopoietic stem cell transplantation. Int J Hematol 2006, 83:415-419.
98. Ulinski T., Charpentier A., Colombat M., Desconclois C., Mougenot B., Fremaux-Bacchi V., et al. From humoral rejection to generalized thrombotic microangiopathy: role of acquired ADAMTS13 deficiency in a renal allograft recipient. Am J Transplant 2006, 6:3030-3036.
99. Feng S., Eyler S.J., Zhang Y., Maga T., Nester C.M., Kroll M.H., et al. Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome. Blood 2013, 122:1487-1493.
100. Licht C., Weyersberg A., Heinen S., Stapenhorst L., Devenge J., Beck B., 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.
101. Kavanagh D., Richards A., Atkinson J.P. Complement regulatory genes and hemolytic uremic syndromes. Annu Rev Med 2008, 59:61-77.
102. Thompson R., Winterborn M. Hypocomplementaemia due to a genetic deficiency of beta-1 H globulin. Clin Exp Immunol 1981, 46:110-119.
103. Saunders R.E., Abarrategui-Garrido C., Fremeaux-Bacchi V., Goicoechea de Jorge E., Goodship T.H., Lopez Trascasa M., et al. The interactive factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and factor I mutations with structural models. Hum Mutat 2007, 28:222-234.
104. Zuber J., Le Quintrec M., Sberro-Sloussan R., Loirat C., Frémeaux-Bacchi, Legendre C. New insights into postrenal transplant hemolytic uremic syndrome. Nat Rev Nephrol 2011, 7:23-35.
105. Maga T.K., Nishimura C.J., Weaver A.E., Frees K.L., Smith R.J.H. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat 2010, 310:E1445-E1460. [online].
106. Goicoechea de Jorge E., Harris C.L., Esparza-Gordillo J., Carreras L., Arranz E.A., Garrido C.A., 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, 104:240-245.
107. Frémeaux-Bacchi V., Miller E.C., Liszewski M.K., Strain L., Blouin J., Brown A.L., et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 2008, 112:4948-4952.
108. Loirat C., Garnier A., Sellier-Leclerc A.-L., Kwon T. Plasmatherapy in atypical hemolytic uremic syndrome. Semin Thromb Hemost 2010, 36:673-681.
109. Moore I., Strain L., Pappworth I., Kavanagh D., Barlow P.N., Herbert A.P., 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 2010, 115:379-387.
110. Provaznikova D., Rittich S., Malina M., Seeman T., Marinov I., Riedl M., et al. Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP. Pediatr Nephrol 2012, 27:73-81.
111. Salmon J.E., Heuser C., Triebwasser M., Liszewski M.K., Kavanagh D., Roumenina L., et al. Mutations in complement regulatory proteins predispose to preeclampsia. PLoS Med 2011, 8:e1001013.
112. Fang C.J., Fremeaux-Bacchi V., Liszewski M.K., Pianetti G., Noris M., Goodship T.H., et al. Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis and the HELLP syndrome. Blood 2008, 111:624-632.
113. Jodele S., Licht C., Goebel J., Dixon B.P., Zhang K., Sivakumaran T.A., et al. Abnormalities in the alternative pathway of complement in children with hematopoietic stem cell transplant-associated thrombotic microangiopathy. Blood 2013, 122:2003-2007.
114. Yosief H.O., Iyer S.S., Weiss A.A. Binding of Pk-trisaccharide analogs of globotriaosylceramide to Shiga toxin variants. Infect Immun 2013, 81:2753-2760.
115. Kidokoro K., Satoh M., Nagasu H., Sakuta T., Kuwabara A., Yorimitsu D., et al. Tacrolimus induces glomerular injury via endothelial dysfunction caused by reactive oxygen species and inflammatory change. Kidney Blood Press Res 2012, 35:549-557.
116. Carmona A., Diaz-Ricart M., Palomo M., Molina P., Pino M., Rovira M., et al. Distinct deleterious effects of cyclosporine and tacrolimus and combined tacrolimus-sirolimus on endothelial cells: protective effect of defibrotide. Biol Blood Marrow Transplant 2013, 19:1439-1445.
117. Cattell V. Mitomycin-induced hemolytic uremic kidney: an experimental model in the rat. Am J Pathol 1985, 12:88-95.
118. Jancar S., Sánchez Crespo M. Immune complex-mediated tissue injury: a multistep paradigm. Trends Immunol 2005, 26:48-55.
119. Roberts J.M., Taylor R.N., Goldfien A. Clinical and biochemical evidence of endothelial cell dysfunction in the pregnancy syndrome preeclampsia. Am J Hypertens 1991, 4:700-708.
120. Redman C.W., Sacks G.P., Sargent I.L. Preeclampsia: an excessive maternal inflammatory response to pregnancy. Am J Obstet Gynecol 1999, 180:499-506.
121. Bukowski R.M., Hewlett J.S., Harris J.W., Hoffman G.C., Battle J.D., Silverblatt E., et al. Exchange transfusion in the treatment of thrombotic thrombocytopenic purpura. Semin Hematol 1976, 13:219-232.
122. Bukowski R.M., King J.W., Hewlett J.S. Plasmapheresis in the treatment of thrombotic thrombocytopenic purpura. Blood 1977, 50:413-417.
123. Byrnes J.J., Khurana M. Treatment of thrombotic thrombocytopenic purpura with plasma. N Engl J Med 1977, 297:1386-1389.
124. Rock G.A., Shumak K.H., Buskard N.A., Blanchette V.S., Kelton J.G., Nair R.C., et al. Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. N Engl J Med 1991, 325:393-397.
125. Harkness D.R., Byrnes J.J., EC-Y Lian, Williams W.D., Hensley G.T. Hazard of platelet transfusion in thrombotic thrombocytopenic purpura. J Am Med Assoc 1981, 246:1931-1933.
126. Duffy S.M., Coyle T.E. Platelet transfusions and bleeding complications associated with plasma exchange catheter placement in patients with presumed thrombotic thrombocytopenic purpura. J Clin Apher 2013, 28:356-358.
127. Rosove M.H., Ho W.G., Goldfinger D. Ineffectiveness of aspirin and dipyridamole in the treatment of thrombotic thrombocytopenic purpura. Ann Intern Med 1982, 96:27-33.
128. Fakhouri F., Deroure B., Hummel A. A new treatment for TTP?. Nephrol Dial Transplant 2006, 21:577-579.
129. Heidel F., Lipka D.B., von Auer C., Huber C., Scharrer I., Hess G. Addition of rituximab to standard therapy improves response rate and progression-free survival in relapsed or refractory thrombotic thrombocytopenic purpura and autoimmune haemolytic anaemia. Thromb Haemost 2007, 97:228-233.
130. Knöbl P. Treatment of thrombotic microangiopathy with a focus on new treatment options. Hämostaseologie 2013, 2:149-159.
131. Shortt J., Oh D.H., Opat S.S. ADAMTS13 antibody depletion by bortezomib in thrombotic thrombocytopenic purpura. N Engl J Med 2013, 368:90-92.
132. Kadri A., Moinuddin M., de Leeuw N.K.M. Phagocytosis of blood cells by splenic macrophages in thrombotic thrombocytopenic purpura. Ann Intern Med 1975, 82:799-802.
133. Rosove M.H., Bhuta S. Splenectomy and extravascular platelet destruction in thrombotic thrombocytopenic purpura. Arch Intern Med 1985, 145:937-939.
134. Kappers-Klunne M.C., Wijermans P., Fijnheer R., Croockewit A.J., van der Holt B., de Wolf J.T.M., et al. Splenectomy for the treatment of thrombotic thrombocytopenic purpura. Br J Haematol 2005, 130:768-776.
135. Lester W.A., Williams M.D., Allford S.L., Enayat M.S., Machin S.J. Successful treatment of congenital thrombotic thrombocytopenic purpura using the intermediate purity factor VIII concentrate BPL 8Y. Br J Haematol 2002, 119:176-179.
136. Lapeyraque A.-L., Malina M., Fremeaux-Bacchi V., Boppel T., Kirschfink M., Oualha M., et al. Eculizumab in severe Shiga-toxin-associated HUS. N Engl J Med 2011, 364:2561-2563.
137. Wong C.S., Mooney J.C., Brandt J.R., Staples A.O., Jelacic S., Boster D.R., et al. Risk factors for the hemolytic uremic syndrome in children infected with Escherichia coli O157:H7: a multivariable analysis. Clin Infect Dis 2012, 55:33-41.
138. Hofer J., Janecke A.R., Zimmerhackl L.B., Riedl M., Rosales A., Giner T., 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 2013, 8:407-415.
139. Pickering M.C., Warren J., Rose K.L., Carlucci F., Wang Y., Walport M.J., et al. Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice. Proc Natl Acad Sci U S A 2006, 103:9649-9654.
140. Legendre C.M., Licht C., Muus P., Greenbaum L.A., Babu S., Bedrosian C., et al. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med 2013, 368:2169-2181.
141. Gulleroglu K., Fidan K., Hançer V.S., Bayrakci U., Baskin E., Soylemezoglu O. Neurologic involvement in atypical hemolytic uremic syndrome with successful treatment with eculizumab. Pediatr Nephrol 2013, 28:827-830.
142. http://www.healthcare.uiowa.edu/labs/morl/Gene_List_Complete.htm.
143. Nishimura J, Yamamoto M, Hayashi S, Ohyashiki K, Ando K, Noji H, et al. A rare genetic polymorphism in C5 confers poor response to the anti-C5 monoclonal antibody eculizumab by nine Japanese patients with PNH. 54th American Society of Hematology annual meeting and exposition, Atlanta, GA, December 8-11; 2012 [Abstract 3197].
144. Sarode R., McFarland J.G., Flomenberg N., Casper J.T., Cohen E.P., Drobyski W.R., et al. Therapeutic plasma exchange does not appear to be effective in the management of thrombotic thrombocytopenic purpura-hemolytic uremic syndrome following bone marrow transplantation. Bone Marrow Transplant 1995, 16:271-275.
145. Werner T.L., Agarwal N., Carney H.M., Rodgers G.M. Management of cancer-associated thrombotic microangiopathy: what is the right approach?. Am J Hematol 2007, 82:295-298.
146. Holz J.-B. The TITAN trial-assessing the efficacy and safety of an anti-von Willebrand factor Nanobody in patients with acquired thrombotic thrombocytopenic purpura. Transfus Apher Sci 2012, 46:343-346.
147. Firbas C., Siller-Matula J.M., Jilma B. Targeting von Willebrand factor and platelet glycoprotein Ib receptor. Expert Rev Cardiovasc Ther 2010, 8:1689-1701.