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Volumn 50, Issue 5, 2011, Pages 487-493

Thrombotic thrombocytopenic purpura with severe ADAMTS-13 deficiency in a patient with antiphospholipid antibodies and Charcot-Marie-Tooth disease

Author keywords

Adamts 13; Antiphospholipid antibodies (aPL); Charcot Marie Tooth disease (CMT) (4 6 keywords); Thrombotic thrombocytopenic purpura (TTP)

Indexed keywords

ACETYLSALICYLIC ACID; FRESH FROZEN PLASMA; IMMUNOGLOBULIN; PHOSPHOLIPID ANTIBODY; PREDNISOLONE; PREDNISONE; THROMBOCYTE CONCENTRATE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

EID: 79952351453     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.50.4300     Document Type: Article
Times cited : (4)

References (33)
  • 1
    • 0020347466 scopus 로고
    • Thrombotic thrombocytopenic purpura: A review
    • Bukowski RM. Thrombotic thrombocytopenic purpura: a review. Prog Hemost Thromb 6: 287-337, 1982.
    • (1982) Prog Hemost Thromb , vol.6 , pp. 287-337
    • Bukowski, R.M.1
  • 2
    • 0037100531 scopus 로고    scopus 로고
    • Von Willebrand factor-cleaving protease (ADAMTS13) in thrombocytopenic disorders: A severely deficient activity is specific for thrombotic thrombocytopenic purpura
    • Bianchi V, Robles R, Alberio L, Furlan M, Lammle B. Von Willebrand factor-cleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific for thrombotic thrombocytopenic purpura. Blood 100: 710-713, 2002.
    • (2002) Blood , vol.100 , pp. 710-713
    • Bianchi, V.1    Robles, R.2    Alberio, L.3    Furlan, M.4    Lammle, B.5
  • 3
    • 0030973267 scopus 로고    scopus 로고
    • Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura
    • Furlan M, Robles R, Solenthaler M, Wassmer M, Sandoz P, Lammle B. Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura. Blood 89: 3097-3103, 1997.
    • (1997) Blood , vol.89 , pp. 3097-3103
    • Furlan, M.1    Robles, R.2    Solenthaler, M.3    Wassmer, M.4    Sandoz, P.5    Lammle, B.6
  • 4
    • 0032569884 scopus 로고    scopus 로고
    • von Willebrand factorcleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome
    • Furlan M, Robles R, Galbusera M, et al. von Willebrand factorcleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med 339: 1578-1584, 1998.
    • (1998) N Engl J Med , vol.339 , pp. 1578-1584
    • Furlan, M.1    Robles, R.2    Galbusera, M.3
  • 5
    • 0032569840 scopus 로고    scopus 로고
    • Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura
    • Tsai HM, Lian EC. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med 339: 1585-1594, 1998.
    • (1998) N Engl J Med , vol.339 , pp. 1585-1594
    • Tsai, H.M.1    Lian, E.C.2
  • 6
    • 0020428664 scopus 로고
    • Unusually large plasma factor VIII: Von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura
    • Moake JL, Rudy CK, Troll JH, et al. Unusually large plasma factor VIII: von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med 307: 1432-1435, 1982.
    • (1982) N Engl J Med , vol.307 , pp. 1432-1435
    • Moake, J.L.1    Rudy, C.K.2    Troll, J.H.3
  • 7
    • 0035807348 scopus 로고    scopus 로고
    • Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
    • Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413: 488-494, 2001.
    • (2001) Nature , vol.413 , pp. 488-494
    • Levy, G.G.1    Nichols, W.C.2    Lian, E.C.3
  • 8
    • 19044365367 scopus 로고    scopus 로고
    • Predicting response to plasma exchange in patients with thrombotic thrombocytopenic purpura with measurement of vWF-cleaving protease activity
    • Mori Y, Wada H, Gabazza EC, et al. Predicting response to plasma exchange in patients with thrombotic thrombocytopenic purpura with measurement of vWF-cleaving protease activity. Transfusion 42: 572-580, 2002.
    • (2002) Transfusion , vol.42 , pp. 572-580
    • Mori, Y.1    Wada, H.2    Gabazza, E.C.3
  • 9
    • 0035525768 scopus 로고    scopus 로고
    • Changes in health and disease of the metalloprotease that cleaves von Willebrand factor
    • Mannucci PM, Canciani MT, Forza I, Lussana F, Lattuada A, Rossi E. Changes in health and disease of the metalloprotease that cleaves von Willebrand factor. Blood 98: 2730-2735, 2001.
    • (2001) Blood , vol.98 , pp. 2730-2735
    • Mannucci, P.M.1    Canciani, M.T.2    Forza, I.3    Lussana, F.4    Lattuada, A.5    Rossi, E.6
  • 10
    • 0141649437 scopus 로고    scopus 로고
    • Von Willebrand factor cleaving protease (ADAMTS-13) in 123 patients with connective tissue diseases (systemic lupus erythematosus and systemic sclerosis)
    • Mannucci PM, Vanoli M, Forza I, Canciani MT, Scorza R. Von Willebrand factor cleaving protease (ADAMTS-13) in 123 patients with connective tissue diseases (systemic lupus erythematosus and systemic sclerosis). Haematologica 88: 914-918, 2003.
    • (2003) Haematologica , vol.88 , pp. 914-918
    • Mannucci, P.M.1    Vanoli, M.2    Forza, I.3    Canciani, M.T.4    Scorza, R.5
  • 12
    • 0033911099 scopus 로고    scopus 로고
    • A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
    • Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 67: 37-46, 2000.
    • (2000) Am J Hum Genet , vol.67 , pp. 37-46
    • Mersiyanova, I.V.1    Perepelov, A.V.2    Polyakov, A.V.3
  • 13
    • 0037370894 scopus 로고    scopus 로고
    • Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
    • Jordanova A, De Jonghe P, Boerkel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126: 590-597, 2003.
    • (2003) Brain , vol.126 , pp. 590-597
    • Jordanova, A.1    de Jonghe, P.2    Boerkel, C.F.3
  • 14
    • 20144366550 scopus 로고    scopus 로고
    • Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
    • Zuchner S, Noureddine M, Kennerson M, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 37: 289-294, 2005.
    • (2005) Nat Genet , vol.37 , pp. 289-294
    • Zuchner, S.1    Noureddine, M.2    Kennerson, M.3
  • 15
    • 0034597062 scopus 로고    scopus 로고
    • Regulated interactions between dynamin and the actin-binding protein cortactin modulate cell shape
    • McNiven MA, Kim L, Krueger EW, Orth JD, Cao H, Wong TW. Regulated interactions between dynamin and the actin-binding protein cortactin modulate cell shape. J Cell Biol 151: 187-198, 2000.
    • (2000) J Cell Biol , vol.151 , pp. 187-198
    • McNiven, M.A.1    Kim, L.2    Krueger, E.W.3    Orth, J.D.4    Cao, H.5    Wong, T.W.6
  • 16
    • 67650066361 scopus 로고    scopus 로고
    • Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
    • Claeys KG, Zuchner S, Kennerson M, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain 132: 1741-1752, 2009.
    • (2009) Brain , vol.132 , pp. 1741-1752
    • Claeys, K.G.1    Zuchner, S.2    Kennerson, M.3
  • 17
    • 0035885922 scopus 로고    scopus 로고
    • Antiphospholipid antibodies and antiphospholipid syndrome in patients presenting with immune thrombocytopenic purpura: A prospective cohort study
    • Diz-Kucukkaya R, Hacihanefio-lu A, Yenerel M, et al. Antiphospholipid antibodies and antiphospholipid syndrome in patients presenting with immune thrombocytopenic purpura: a prospective cohort study. Blood 98: 1760-1764, 2001.
    • (2001) Blood , vol.98 , pp. 1760-1764
    • Diz-Kucukkaya, R.1    Hacihanefio-Lu, A.2    Yenerel, M.3
  • 18
    • 67449159236 scopus 로고    scopus 로고
    • Complement activation in patients with primary antiphospholipid syndrome
    • Oku K, Atsumi T, Bohgaki M, et al. Complement activation in patients with primary antiphospholipid syndrome. Ann Rheum Dis 68: 1030-1035, 2009.
    • (2009) Ann Rheum Dis , vol.68 , pp. 1030-1035
    • Oku, K.1    Atsumi, T.2    Bohgaki, M.3
  • 19
    • 0034759807 scopus 로고    scopus 로고
    • A novel human metalloprotease synthesized in the liver and secreted into the blood: Possibly, the von Willebrand factor-cleaving protease?
    • Soejima K, Mimura N, Hirashima M, et al. A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease? J Biol Chem 130: 475-480, 2001.
    • (2001) J Biol Chem , vol.130 , pp. 475-480
    • Soejima, K.1    Mimura, N.2    Hirashima, M.3
  • 20
    • 0037111571 scopus 로고    scopus 로고
    • Cloning, expression, and functional characterization of the von Willebrand factorcleaving protease (ADAMTS13)
    • Plaimauer B, Zimmermann K, Volkel D, et al. Cloning, expression, and functional characterization of the von Willebrand factorcleaving protease (ADAMTS13). Blood 100: 3626-3632, 2002.
    • (2002) Blood , vol.100 , pp. 3626-3632
    • Plaimauer, B.1    Zimmermann, K.2    Volkel, D.3
  • 21
    • 0026340037 scopus 로고
    • Thrombotic microangiopathy and the antiphospholipid antibody syndrome
    • Durand JM, Lefevre P, Kaplanski G, Soubeyrand J. Thrombotic microangiopathy and the antiphospholipid antibody syndrome. J Rheumatol 18: 1916-1918, 1991.
    • (1991) J Rheumatol , vol.18 , pp. 1916-1918
    • Durand, J.M.1    Lefevre, P.2    Kaplanski, G.3    Soubeyrand, J.4
  • 22
    • 0028694741 scopus 로고
    • Thrombotic thrombocytopenic purpura (TTP) observed in a patient with primary antiphospholipid antibody syndrome
    • (in Japanese with English abstract)
    • Umibe T, Nawata Y, Mori N, et al. Thrombotic thrombocytopenic purpura (TTP) observed in a patient with primary antiphospholipid antibody syndrome. Ryumachi 34: 981-987, 1994 (in Japanese with English abstract).
    • (1994) Ryumachi , vol.34 , pp. 981-987
    • Umibe, T.1    Nawata, Y.2    Mori, N.3
  • 23
    • 0031042590 scopus 로고    scopus 로고
    • Chronic relapsing thrombotic thrombocytopenic purpura and antiphospholipid antibodies: A report of two cases
    • Trent K, Neustater BR, Lottenberg R. Chronic relapsing thrombotic thrombocytopenic purpura and antiphospholipid antibodies: a report of two cases. Am J Hematol 54: 155-159, 1997.
    • (1997) Am J Hematol , vol.54 , pp. 155-159
    • Trent, K.1    Neustater, B.R.2    Lottenberg, R.3
  • 24
    • 5644272713 scopus 로고    scopus 로고
    • Thrombotic thrombocytopenic purpura with severe ADAMTS-13 deficiency in two patients with primary antiphospholipid syndrome
    • Amoura Z, Costedoat-Chalumeau N, Veyradier A, et al. Thrombotic thrombocytopenic purpura with severe ADAMTS-13 deficiency in two patients with primary antiphospholipid syndrome. Arthritis Rheum 50: 3260-3264, 2004.
    • (2004) Arthritis Rheum , vol.50 , pp. 3260-3264
    • Amoura, Z.1    Costedoat-Chalumeau, N.2    Veyradier, A.3
  • 25
    • 67650663710 scopus 로고    scopus 로고
    • Primary antiphospholipid syndrome with thrombotic thrombocytopenic purpura: A very unusual association
    • de Carvalho JF, Freitas CA, Lima IV, Leite CC, Lage LV. Primary antiphospholipid syndrome with thrombotic thrombocytopenic purpura: a very unusual association. Lupus 18: 841-844, 2009.
    • (2009) Lupus , vol.18 , pp. 841-844
    • de Carvalho, J.F.1    Freitas, C.A.2    Lima, I.V.3    Leite, C.C.4    Lage, L.V.5
  • 26
    • 0029925856 scopus 로고    scopus 로고
    • Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis
    • Furlan M, Robles R, Lammle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 87: 4223-4234, 1996.
    • (1996) Blood , vol.87 , pp. 4223-4234
    • Furlan, M.1    Robles, R.2    Lammle, B.3
  • 27
    • 0029878123 scopus 로고    scopus 로고
    • Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion
    • Tsai HM. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 87: 4235-4244, 1996.
    • (1996) Blood , vol.87 , pp. 4235-4244
    • Tsai, H.M.1
  • 28
    • 17144408687 scopus 로고    scopus 로고
    • FRETSVWF73, a first fluorogenic substrate for ADAMTS13 assay
    • Kokame K, Nobe Y, Kokubo Y, Okayama A, Miyata T. FRETSVWF73, a first fluorogenic substrate for ADAMTS13 assay. Br J Haematol 129: 93-100, 2005.
    • (2005) Br J Haematol , vol.129 , pp. 93-100
    • Kokame, K.1    Nobe, Y.2    Kokubo, Y.3    Okayama, A.4    Miyata, T.5
  • 29
    • 67349205869 scopus 로고    scopus 로고
    • Catastrophic antiphospholipid syndrome (CAPS): Descriptive analysis of a series of 280 patients from the "CAPS Registry"
    • Cervera R, Bucciarelli S, Plasin MA, et al. Catastrophic antiphospholipid syndrome (CAPS): descriptive analysis of a series of 280 patients from the "CAPS Registry". J Autoimmun 32: 240-245, 2009.
    • (2009) J Autoimmun , vol.32 , pp. 240-245
    • Cervera, R.1    Bucciarelli, S.2    Plasin, M.A.3
  • 30
    • 42249106051 scopus 로고    scopus 로고
    • The VWF/ADAMTS13 axis in the antiphospholipid syndrome: ADAMTS13 antibodies and ADAMTS13 dysfunction
    • Austin SK, Starke RD, Lawrie AS, Cohen H, Machin SJ, Mackie IJ. The VWF/ADAMTS13 axis in the antiphospholipid syndrome: ADAMTS13 antibodies and ADAMTS13 dysfunction. Br J Haematol 141: 536-544, 2008.
    • (2008) Br J Haematol , vol.141 , pp. 536-544
    • Austin, S.K.1    Starke, R.D.2    Lawrie, A.S.3    Cohen, H.4    Machin, S.J.5    Mackie, I.J.6
  • 31
    • 2442701758 scopus 로고    scopus 로고
    • Thrombotic microangiopathic haemolytic anaemia and antiphospholipid antibodies
    • Espinosa G, Bucciarelli S, Cervera R, et al. Thrombotic microangiopathic haemolytic anaemia and antiphospholipid antibodies. Ann Rheum Dis 63: 730-736, 2004.
    • (2004) Ann Rheum Dis , vol.63 , pp. 730-736
    • Espinosa, G.1    Bucciarelli, S.2    Cervera, R.3
  • 33
    • 47249144803 scopus 로고    scopus 로고
    • Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura
    • Sadler JE. Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura. Blood 112: 11-18, 2008.
    • (2008) Blood , vol.112 , pp. 11-18
    • Sadler, J.E.1


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