메뉴 건너뛰기




Volumn 14, Issue 1, 2016, Pages 73-82

High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: From clinical observation to evidence

Author keywords

ADAMTS 13 protein, human; Congenital thrombotic thrombocytopenic purpura; Mutation; Prevalence study; Upshaw Schulman syndrome

Indexed keywords

VON WILLEBRAND FACTOR CLEAVING PROTEINASE; ADAMTS13 PROTEIN, HUMAN;

EID: 84955193592     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.13186     Document Type: Article
Times cited : (57)

References (40)
  • 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
    • 84881538470 scopus 로고    scopus 로고
    • Children and adults with thrombotic thrombocytopenic purpura associated with severe, acquired Adamts13 deficiency: comparison of incidence, demographic and clinical features
    • Reese JA, Muthurajah DS, Kremer Hovinga JA, Vesely SK, Terrell DR, George JN. Children and adults with thrombotic thrombocytopenic purpura associated with severe, acquired Adamts13 deficiency: comparison of incidence, demographic and clinical features. Pediatr Blood Cancer 2013; 60: 1676-82.
    • (2013) Pediatr Blood Cancer , vol.60 , pp. 1676-1682
    • Reese, J.A.1    Muthurajah, D.S.2    Kremer Hovinga, J.A.3    Vesely, S.K.4    Terrell, D.R.5    George, J.N.6
  • 3
    • 59449089457 scopus 로고    scopus 로고
    • Inherited thrombotic thrombocytopenic purpura
    • Galbusera M, Noris M, Remuzzi G. Inherited thrombotic thrombocytopenic purpura. Haematologica 2009; 94: 166-70.
    • (2009) Haematologica , vol.94 , pp. 166-170
    • Galbusera, M.1    Noris, M.2    Remuzzi, G.3
  • 4
    • 0026048114 scopus 로고
    • Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. Canadian Apheresis Study Group
    • Rock GA, Shumak KH, Buskard NA, Blanchette VS, Kelton JG, Nair RC, Spasoff RA. Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. Canadian Apheresis Study Group. N Engl J Med 1991; 325: 393-7.
    • (1991) N Engl J Med , vol.325 , pp. 393-397
    • Rock, G.A.1    Shumak, K.H.2    Buskard, N.A.3    Blanchette, V.S.4    Kelton, J.G.5    Nair, R.C.6    Spasoff, R.A.7
  • 5
    • 0022626662 scopus 로고
    • Thrombotic thrombocytopenic purpura in 2 siblings: defective platelet function and plasma factor deficiency occurring simultaneously
    • Waage A, Siegel J, Thorstensen K, Lamvik J. Thrombotic thrombocytopenic purpura in 2 siblings: defective platelet function and plasma factor deficiency occurring simultaneously. Scand J Haematol. 1986; 36: 55-7.
    • (1986) Scand J Haematol. , vol.36 , pp. 55-57
    • Waage, A.1    Siegel, J.2    Thorstensen, K.3    Lamvik, J.4
  • 7
    • 0042697581 scopus 로고    scopus 로고
    • von Willebrand factor-cleaving protease (ADAMTS-13) activity in thrombotic microangiopathies: diagnostic experience 2001/2002 of a single research laboratory
    • Studt JD, Kremer Hovinga JA, Alberio L, Bianchi V, Lämmle B. von Willebrand factor-cleaving protease (ADAMTS-13) activity in thrombotic microangiopathies: diagnostic experience 2001/2002 of a single research laboratory. Swiss Med Wkly 2003; 133: 325-32.
    • (2003) Swiss Med Wkly , vol.133 , pp. 325-332
    • Studt, J.D.1    Kremer Hovinga, J.A.2    Alberio, L.3    Bianchi, V.4    Lämmle, B.5
  • 8
    • 34047192953 scopus 로고    scopus 로고
    • A child with relapsing haemolytic anemia and thrombocytopenia
    • Gulati S, Siebke E, Gamlem AM. A child with relapsing haemolytic anemia and thrombocytopenia. Tidsskr Nor Laegeforen 2007; 127: 884-5.
    • (2007) Tidsskr Nor Laegeforen , vol.127 , pp. 884-885
    • Gulati, S.1    Siebke, E.2    Gamlem, A.M.3
  • 12
    • 17144408687 scopus 로고    scopus 로고
    • FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay
    • Kokame K, Nobe Y, Kokubo Y, Okayama A, Miyata T. FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay. Br J Haematol 2005; 129: 93-100.
    • (2005) Br J Haematol , vol.129 , pp. 93-100
    • Kokame, K.1    Nobe, Y.2    Kokubo, Y.3    Okayama, A.4    Miyata, T.5
  • 14
    • 33645643017 scopus 로고    scopus 로고
    • Measurement of ADAMTS-13 activity in plasma by the FRETS-VWF73 assay: comparison with other assay methods
    • Kremer Hovinga JA, Mottini M, Lämmle B. Measurement of ADAMTS-13 activity in plasma by the FRETS-VWF73 assay: comparison with other assay methods. J Thromb Haemost 2006; 4: 1146-8.
    • (2006) J Thromb Haemost , vol.4 , pp. 1146-1148
    • Kremer Hovinga, J.A.1    Mottini, M.2    Lämmle, B.3
  • 19
    • 74549138555 scopus 로고    scopus 로고
    • Registry of 919 patients with thrombotic microangiopathies across Japan: database of Nara Medical University during 1998-2008
    • Fujimura Y, Matsumoto M. Registry of 919 patients with thrombotic microangiopathies across Japan: database of Nara Medical University during 1998-2008. Intern Med 2010; 49: 7-15.
    • (2010) Intern Med , vol.49 , pp. 7-15
    • Fujimura, Y.1    Matsumoto, M.2
  • 20
    • 80051590576 scopus 로고    scopus 로고
    • Polymorphisms and mutations of ADAMTS13 in Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome
    • Kokame K, Kokubo Y, Miyata T. Polymorphisms and mutations of ADAMTS13 in Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome. J Thromb Haemost 2011; 9: 1654-6.
    • (2011) J Thromb Haemost , vol.9 , pp. 1654-1656
    • Kokame, K.1    Kokubo, Y.2    Miyata, T.3
  • 22
    • 74049137935 scopus 로고    scopus 로고
    • ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
    • Lotta LA, Garagiola I, Palla R, Cairo A, Peyvandi F. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat 2010; 31: 11-9.
    • (2010) Hum Mutat , vol.31 , pp. 11-19
    • Lotta, L.A.1    Garagiola, I.2    Palla, R.3    Cairo, A.4    Peyvandi, F.5
  • 23
    • 0942287728 scopus 로고    scopus 로고
    • Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
    • Pimanda JE, Maekawa A, Wind T, Paxton J, Chesterman CN, Hogg PJ. Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. Blood 2004; 103: 627-9.
    • (2004) Blood , vol.103 , pp. 627-629
    • Pimanda, J.E.1    Maekawa, A.2    Wind, T.3    Paxton, J.4    Chesterman, C.N.5    Hogg, P.J.6
  • 24
    • 8844286829 scopus 로고    scopus 로고
    • von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura
    • Peyvandi F, Ferrari S, Lavoretano S, Canciani MT, Mannucci PM. von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura. Br J Haematol 2004; 127: 433-9.
    • (2004) Br J Haematol , vol.127 , pp. 433-439
    • Peyvandi, F.1    Ferrari, S.2    Lavoretano, S.3    Canciani, M.T.4    Mannucci, P.M.5
  • 26
    • 69449087896 scopus 로고    scopus 로고
    • Thrombotic thrombocytopenic purpura: incidence of congenital form of disease in north Moravia (region Moravia-Silesia)
    • Cermakova Z, Hrdlikova R, Sulakova T, Koristka M, Kovarova P, Hrachovinova I. Thrombotic thrombocytopenic purpura: incidence of congenital form of disease in north Moravia (region Moravia-Silesia). Prague Med Rep. 2009; 110: 239-44.
    • (2009) Prague Med Rep. , vol.110 , pp. 239-244
    • Cermakova, Z.1    Hrdlikova, R.2    Sulakova, T.3    Koristka, M.4    Kovarova, P.5    Hrachovinova, I.6
  • 35
    • 0042131687 scopus 로고    scopus 로고
    • Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings
    • Milman N, Pedersen P. Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings. Clin Genet 2003; 64: 36-47.
    • (2003) Clin Genet , vol.64 , pp. 36-47
    • Milman, N.1    Pedersen, P.2
  • 36
    • 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, Obert B, Loirat C, Meyer D, Girma JP. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). J Thromb Haemost 2004; 2: 424-9.
    • (2004) J Thromb Haemost , vol.2 , pp. 424-429
    • Veyradier, A.1    Lavergne, J.M.2    Ribba, A.S.3    Obert, B.4    Loirat, C.5    Meyer, D.6    Girma, J.P.7
  • 38
    • 77954737068 scopus 로고    scopus 로고
    • The relationship between blood groups and disease
    • Anstee DJ. The relationship between blood groups and disease. Blood 2010; 115: 4635-43.
    • (2010) Blood , vol.115 , pp. 4635-4643
    • Anstee, D.J.1
  • 39
    • 77953129563 scopus 로고    scopus 로고
    • Molecular basis of cholera blood-group dependence and implications for a world characterized by climate change
    • Holmner A, Mackenzie A, Krengel U. Molecular basis of cholera blood-group dependence and implications for a world characterized by climate change. FEBS Lett 2010; 584: 2548-55.
    • (2010) FEBS Lett , vol.584 , pp. 2548-2555
    • Holmner, A.1    Mackenzie, A.2    Krengel, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.