메뉴 건너뛰기




Volumn 33, Issue 2, 2013, Pages 138-143

Hereditary thrombotic thrombo - cytopenic purpura and the hereditary TTP registry

Author keywords

ADAMTS13; Hereditary thrombotic thrombocytopenic purpura; Upshaw Schulman syndrome

Indexed keywords

VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

EID: 84881504950     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.5482/HAMO-13-04-0026     Document Type: Article
Times cited : (45)

References (44)
  • 1
    • 0037158606 scopus 로고    scopus 로고
    • Thrombotic microangiopathies
    • Moake JL. Thrombotic microangiopathies. N Engl J Med 2002; 347: 589-600.
    • (2002) N Engl J Med , vol.347 , pp. 589-600
    • Moake, J.L.1
  • 2
    • 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 et al. Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura. Blood 1997; 89: 3097-3103.
    • (1997) Blood , vol.89 , pp. 3097-3103
    • Furlan, M.1    Robles, R.2    Solenthaler, M.3
  • 3
    • 0032569884 scopus 로고    scopus 로고
    • Von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolyticuremic syndrome
    • Furlan M, Robles R, Galbusera M et al. Von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolyticuremic syndrome. N Engl J Med 1998; 339: 1578-1584.
    • (1998) N Engl J Med , vol.339 , pp. 1578-1584
    • Furlan, M.1    Robles, R.2    Galbusera, M.3
  • 4
    • 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 1998; 339: 1585-1594.
    • (1998) N Engl J Med , vol.339 , pp. 1585-1594
    • Tsai, H.M.1    Lian, E.C.2
  • 5
    • 41749101957 scopus 로고    scopus 로고
    • Pathogenesis of thrombotic microangiopathies
    • Zheng XL, Sadler JE. Pathogenesis of thrombotic microangiopathies. Annu Rev Pathol 2008; 3: 249-277.
    • (2008) Annu Rev Pathol , vol.3 , pp. 249-277
    • Zheng, X.L.1    Sadler, J.E.2
  • 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. 2001; 413: 488-494.
    • (2001) Nature. , vol.413 , pp. 488-494
    • Levy, G.G.1    Nichols, W.C.2    Lian, E.C.3
  • 9
    • 0018098453 scopus 로고
    • Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia
    • Upshaw JD. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med 1978; 298: 1350-1352.
    • (1978) N Engl J Med , vol.298 , pp. 1350-1352
    • Upshaw, J.D.1
  • 10
    • 0032918258 scopus 로고    scopus 로고
    • Recovery and half-life of von Willebrand factor-cleaving protease after plasma therapy in patients with thrombotic thrombocytopenic purpura
    • Furlan M, Robles R, Morselli B et al. Recovery and half-life of von Willebrand factor-cleaving protease after plasma therapy in patients with thrombotic thrombocytopenic purpura. Thromb Haemost 1999; 81: 8-13.
    • (1999) Thromb Haemost , vol.81 , pp. 8-13
    • Furlan, M.1    Robles, R.2    Morselli, B.3
  • 11
    • 0034994133 scopus 로고    scopus 로고
    • Ten years of prophylactic treatment with freshfrozen plasma in a child with chronic relapsing thrombotic thrombocytopenic purpura as a result of a congenital deficiency of von Willebrand factor- cleaving protease
    • Barbot J, Costa E, Guerra M, Barreirinho MS et al. Ten years of prophylactic treatment with freshfrozen plasma in a child with chronic relapsing thrombotic thrombocytopenic purpura as a result of a congenital deficiency of von Willebrand factor- cleaving protease. Br J Haematol 2001; 113: 649-651.
    • (2001) Br J Haematol , vol.113 , pp. 649-651
    • Barbot, J.1    Costa, E.2    Guerra, M.3    Barreirinho, M.S.4
  • 12
    • 46949096955 scopus 로고    scopus 로고
    • A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13
    • Meyer SC, Jeddi R, Meddeb B et al. A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13. Ann Hematol 2008; 87: 663-666.
    • (2008) Ann Hematol , vol.87 , pp. 663-666
    • Meyer, S.C.1    Jeddi, R.2    Meddeb, B.3
  • 13
    • 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 1982; 307: 1432-1435.
    • (1982) N Engl J Med , vol.307 , pp. 1432-1435
    • Moake, J.L.1    Rudy, C.K.2    Troll, J.H.3
  • 14
    • 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, 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.
    • (1996) Blood , vol.87 , pp. 4223-4234
    • Furlan, M.1    Robles, R.2    Lämmle, B.3
  • 15
    • 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 1996; 87: 4235-4244.
    • (1996) Blood , vol.87 , pp. 4235-4244
    • Tsai, H.M.1
  • 16
    • 0037111571 scopus 로고    scopus 로고
    • Cloning, expression, and functional characterization of the von Willebrand factor-cleaving protease (ADAMTS13)
    • Plaimauer B, Zimmermann K, Volkel D et al. Cloning, expression, and functional characterization of the von Willebrand factor-cleaving protease (ADAMTS13). Blood 2002; 100: 3626-3632.
    • (2002) Blood , vol.100 , pp. 3626-3632
    • Plaimauer, B.1    Zimmermann, K.2    Volkel, D.3
  • 19
    • 0037513434 scopus 로고    scopus 로고
    • Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency
    • Assink K, Schiphorst R, Allford S et al. Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. Kidney Int 2003; 63: 1995-9.
    • (2003) Kidney Int , vol.63 , pp. 1995-9
    • Assink, K.1    Schiphorst, R.2    Allford, S.3
  • 20
    • 34547636148 scopus 로고    scopus 로고
    • Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura
    • Manea M, Kristoffersson A, Schneppenheim R et al. Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura. Br J Haematol 2007; 138: 651-662.
    • (2007) Br J Haematol , vol.138 , pp. 651-662
    • Manea, M.1    Kristoffersson, A.2    Schneppenheim, R.3
  • 22
    • 33747155004 scopus 로고    scopus 로고
    • Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura
    • Tao Z, Anthony K, Peng Y et al. Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. J Thromb Haemost 2006; 4: 1931-1935.
    • (2006) J Thromb Haemost , vol.4 , pp. 1931-1935
    • Tao, Z.1    Anthony, K.2    Peng, Y.3
  • 23
    • 38349100169 scopus 로고    scopus 로고
    • Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura
    • Camilleri RS, Cohen H, Mackie IJ et al. Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. J Thromb Haemost 2008; 6: 331-338.
    • (2008) J Thromb Haemost , vol.6 , pp. 331-338
    • Camilleri, R.S.1    Cohen, H.2    Mackie, I.J.3
  • 24
    • 84862498528 scopus 로고    scopus 로고
    • Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura
    • Moatti-Cohen M, Garrec C, Wolf M et al. Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura. Blood 2012; 119: 5888-5897.
    • (2012) Blood , vol.119 , pp. 5888-5897
    • Moatti-Cohen, M.1    Garrec, C.2    Wolf, M.3
  • 25
    • 79960635121 scopus 로고    scopus 로고
    • Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan
    • Fujimura Y, Matsumoto M, Isonishi A et al. Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan. J Thromb Haemost 2011; 9 (Suppl 1): 283-301.
    • (2011) J Thromb Haemost , vol.9 , Issue.SUPPL 1 , pp. 283-301
    • Fujimura, Y.1    Matsumoto, M.2    Isonishi, A.3
  • 26
    • 84864041240 scopus 로고    scopus 로고
    • Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura
    • Lotta LA, Wu HM, Mackie IJ et al. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood 2012; 120: 440-448.
    • (2012) Blood , vol.120 , pp. 440-448
    • Lotta, L.A.1    Wu, H.M.2    Mackie, I.J.3
  • 27
    • 0034917642 scopus 로고    scopus 로고
    • Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome
    • Furlan M, Lämmle B. Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome. Best Pract Res Clin Haematol 2001; 14: 437-454.
    • (2001) Best Pract Res Clin Haematol , vol.14 , pp. 437-454
    • Furlan, M.1    Lämmle, B.2
  • 28
    • 58849165749 scopus 로고    scopus 로고
    • Pregnancy- induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome
    • Fujimura Y, Matsumoto M, Kokame K et al. Pregnancy- induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome. Br J Haematol 2009; 144: 742-754.
    • (2009) Br J Haematol , vol.144 , pp. 742-754
    • Fujimura, Y.1    Matsumoto, M.2    Kokame, K.3
  • 29
    • 74049096521 scopus 로고    scopus 로고
    • Characterization of five homozygous ADAMTS13 mutations in hereditary thrombotic thrombocytopenic purpura - Towards a phenotype-genotype correlation?
    • Meyer SC, Jin S, Cao W, et al. Characterization of five homozygous ADAMTS13 mutations in hereditary thrombotic thrombocytopenic purpura - Towards a phenotype-genotype correlation? ASH Annual Meeting Abstracts 2008; 112: 274.
    • (2008) ASH Annual Meeting Abstracts , vol.112 , pp. 274
    • Meyer, S.C.1    Jin, S.2    Cao, W.3
  • 30
    • 0037372508 scopus 로고    scopus 로고
    • Von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP
    • Schneppenheim R, Budde U, Oyen F et al. Von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood 2003; 101: 1845-1850.
    • (2003) Blood , vol.101 , pp. 1845-1850
    • Schneppenheim, R.1    Budde, U.2    Oyen, F.3
  • 31
    • 6944240035 scopus 로고    scopus 로고
    • Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome)
    • Veyradier A, Lavergne JM, Ribba AS et al. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). J Thromb Haemost 2004; 2: 424-429.
    • (2004) J Thromb Haemost , vol.2 , pp. 424-429
    • Veyradier, A.1    Lavergne, J.M.2    Ribba, A.S.3
  • 32
    • 74049137935 scopus 로고    scopus 로고
    • ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
    • Lotta LA, Garagiola I, Palla R et al. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat 2010; 31: 11-19.
    • (2010) Hum Mutat , vol.31 , pp. 11-19
    • Lotta, L.A.1    Garagiola, I.2    Palla, R.3
  • 33
    • 84865795302 scopus 로고    scopus 로고
    • A phenotype- genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
    • Camilleri RS, Scully M, Thomas M 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.
    • (2012) J Thromb Haemost , vol.10 , pp. 1792-1801
    • Camilleri, R.S.1    Scully, M.2    Thomas, M.3
  • 34
    • 84882238455 scopus 로고    scopus 로고
    • Novel ADAMTS13 mutations in an obstetric patient with Upshaw-Schulman syndrome
    • doi: 10.1002/jca.21251
    • Deal T, Kremer Hovinga JA, Marques MB, Adamski J. Novel ADAMTS13 mutations in an obstetric patient with Upshaw-Schulman syndrome. J Clin Apher 2012; doi: 10.1002/jca.21251.
    • (2012) J Clin Apher
    • Deal, T.1    Kremer Hovinga, J.A.2    Marques, M.B.3    Adamski, J.4
  • 36
    • 23944468642 scopus 로고    scopus 로고
    • Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement
    • Noris M, Bucchioni S, Galbusera M et al. Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement. J Am Soc Nephrol 2005; 16: 1177-1183.
    • (2005) J Am Soc Nephrol , vol.16 , pp. 1177-1183
    • Noris, M.1    Bucchioni, S.2    Galbusera, M.3
  • 37
    • 84866315963 scopus 로고    scopus 로고
    • Indications for a protective function of beta2-glycoprotein I in thrombotic thrombocytopenic purpura
    • Du VX, van Os G, Kremer Hovinga JA et al. Indications for a protective function of beta2-glycoprotein I in thrombotic thrombocytopenic purpura. Br J Haematol 2012; 159: 94-103.
    • (2012) Br J Haematol , vol.159 , pp. 94-103
    • Du, V.X.1    van Os, G.2    Kremer Hovinga, J.A.3
  • 38
    • 0037015057 scopus 로고    scopus 로고
    • Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
    • Kokame K, Matsumoto M, Soejima K et al. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci USA 2002; 99: 11902-11907.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 11902-11907
    • Kokame, K.1    Matsumoto, M.2    Soejima, K.3
  • 39
    • 10744226155 scopus 로고    scopus 로고
    • Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome
    • Matsumoto M, Kokame K, Soejima K et al. Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. Blood 2004; 103: 1305-1310.
    • (2004) Blood , vol.103 , pp. 1305-1310
    • Matsumoto, M.1    Kokame, K.2    Soejima, K.3
  • 40
    • 78549253211 scopus 로고    scopus 로고
    • How I treat patients with thrombotic thrombocytopenic purpura: 2010
    • George JN. How I treat patients with thrombotic thrombocytopenic purpura: 2010. Blood 2010; 116: 4060-4069.
    • (2010) Blood , vol.116 , pp. 4060-4069
    • George, J.N.1
  • 41
    • 84881495917 scopus 로고    scopus 로고
    • Treatment of thrombotic microangiopathy with a focus on new treatment options
    • Knöbl P. Treatment of thrombotic microangiopathy with a focus on new treatment options. Hämo staseologie 2013; 33: 149-159.
    • (2013) Hämo staseologie , vol.33 , pp. 149-159
    • Knöbl, P.1
  • 42
    • 55249092277 scopus 로고    scopus 로고
    • Current management of thrombotic thrombocytopenic purpura
    • Kremer Hovinga JA, Meyer SC. Current management of thrombotic thrombocytopenic purpura. Curr Opin Hematol 2008; 15: 445-450.
    • (2008) Curr Opin Hematol , vol.15 , pp. 445-450
    • Kremer Hovinga, J.A.1    Meyer, S.C.2
  • 43
    • 0037335672 scopus 로고    scopus 로고
    • ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factorcleaving protease activity by recombinant human ADAMTS13
    • Antoine G, Zimmermann K, Plaimauer B et al. ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factorcleaving protease activity by recombinant human ADAMTS13. Br J Haematol 2003; 120: 821-824.
    • (2003) Br J Haematol , vol.120 , pp. 821-824
    • Antoine, G.1    Zimmermann, K.2    Plaimauer, B.3
  • 44
    • 84879402878 scopus 로고    scopus 로고
    • Role of ADAMTS13 in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura
    • Kremer Hovinga JA, Lämmle B. Role of ADAMTS13 in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura. Hematology Am Soc Hematol Educ Program 2012; 610-616.
    • (2012) Hematology Am Soc Hematol Educ Program , pp. 610-616
    • Kremer Hovinga, J.A.1    Lämmle, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.