Plasma markers of coagulation and endothelial activation in Fabry disease: Impact of renal impairment

Nephrology Dialysis Transplantation

Volumn 24, Issue 10, 2009, Pages 3074-3081

  Vedder, Anouk C ^a   Biró, Éva ^a   Aerts, Johannes M F G ^a   Nieuwland, Rienk ^a   Sturk, Guus ^a   Hollak, Carla E M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Coagulation; Endothelial activation; Fabry disease; Globotriaosylceramide; Renal function

Indexed keywords

ALPHA 2 ANTIPLASMIN; BETA THROMBOGLOBULIN; BIOLOGICAL MARKER; C REACTIVE PROTEIN; CD63 ANTIGEN; D DIMER; ENDOTHELIAL PROTEIN C RECEPTOR; INTERLEUKIN 6; PADGEM PROTEIN; PROTHROMBIN FRAGMENT F1+2; THROMBIN ANTITHROMBIN COMPLEX; THROMBOCYTE FACTOR 4; THROMBOPLASTIN; TISSUE PLASMINOGEN ACTIVATOR; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

ADULT; AGED; ARTICLE; B LYMPHOCYTE; BLOOD CLOTTING; CELL ACTIVATION; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE; DISEASE SEVERITY; ENDOTHELIAL MICROPARTICLE; ENDOTHELIUM CELL; ERYTHROCYTE; FABRY DISEASE; FEMALE; FIBRINOLYSIS; GRANULOCYTE; HELPER CELL; HUMAN; KIDNEY FAILURE; KIDNEY FUNCTION; MALE; MEMBRANE MICROPARTICLE; MONOCYTE; PLATELET MICROPARTICLE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; SEMINIFEROUS TUBULE; THROMBOCYTE ACTIVATION;

ADULT; AGED; BIOLOGICAL MARKERS; BLOOD COAGULATION; FABRY DISEASE; FEMALE; HUMANS; MALE; MIDDLE AGED; YOUNG ADULT;

EID: 70349503926     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfp263     Document Type: Article

References (54)

1. Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163-1167
2. Kint JA. Fabry's disease: alpha-galactosidase deficiency. Science 1970; 167: 1268-1269
3. Desnick RJ, Ioannou YA, Eng ME. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, Vol.3, 8th edn. New York: McGraw-Hill, 2001, 3733-3774
4. Moore DF, Kaneski CR, Askari H et al. The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007; 257: 258-263
5. Moore DF, Altarescu G, Barker WC et al. White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyper-perfused brain regions. Brain Res Bull 2003; 62: 231-240
6. Moore DF, Ye F, Schiffmann R et al. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 2003; 24: 1096-1101
7. Moore DF, Herscovitch P, Schiffmann R. Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J Neuroimaging 2001; 11: 303-307
8. Moore DF, Altarescu G, Ling GS et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002; 33: 525-531
9. Moore DF, Scott LT, Gladwin MT et al. Regional cerebral hyperperfu-sion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001; 104: 1506-1512
10. Moore DF, Altarescu G, Herscovitch P et al. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol 2002; 2: 4
11. Moore DF, Schiffmann R, Ulug AM. Elevated CNS average diffusion constant in Fabry disease. Acta Paediatr Suppl 2002; 91: 67-68
12. Moore DF, Ye F, Brennan ML et al. Ascorbate decreases Fabry cerebral hyperperfusion suggestingareactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging 2004; 20: 674-683
13. Altarescu G, Moore DF, Pursley R et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001; 32: 1559-1562
14. Utsumi K, Yamamoto N, Kase R et al. High incidence of thrombosis in Fabry's disease. Intern Med 1997; 36: 327-329
15. Shen Y, Bodary PF, Vargas FB et al. {alpha}-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation. Stroke 2006; 37: 1106-1108
16. Eitzman DT, Bodary PF, Shen Y et al. Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis. J Am Soc Nephrol 2003; 14: 298-302
17. Diamantopoulos EJ, Andreadis EA, Vassilopoulos CV et al. Intermittent claudication unmasking underlying Fabry's disease. Int Angiol 2002; 21: 201-203
18. Hulkova H, Ledvinova J, Poupetova H et al. Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family. Cas Lek Cesk 1999; 138: 660-664
19. Schiffmann R, Rapkiewicz A, Abu-Asab M et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch 2006; 448(3): 337-343
20. Bodary PF, Shen Y, Vargas FB et al. Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency. Circulation 2005; 111: 629-632
21. Barbey F, Brakch N, Linhart A et al. Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr Suppl 2006; 95: 63-68
22. DeGraba T, Azhar S, Dignat-George F et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000; 47: 229-233
23. Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr Suppl 2002; 91: 57-61
24. Sakuraba H, Igarashi T, Shibata T et al. Effect of vitamin E and ticlopidine on platelet aggregation in Fabry's disease. Clin Genet 1987; 31: 349-354
25. Igarashi T, Sakuraba H, Suzuki Y. Activation of platelet function in Fabry's disease. Am J Hematol 1986; 22: 63-67
26. Fedi S, Gensini F, Gori AM et al. Homocysteine and tissue factor pathway inhibitor levels in patients with Fabry's disease. J Thromb Haemost 2005; 3: 2117-2119
27. Gelderman MP, Schiffmann R, Simak J. Elevated endothelial mi-croparticles in Fabry children decreased after enzyme replacement therapy. Arterioscler Thromb Vasc Biol 2007; 27: e138-e139
28. Warkentin TE, Hayward CP, Boshkov LK et al. Sera from patients with heparin-induced thrombocytopenia generate platelet-derived mi-croparticles with procoagulant activity: an explanation for the throm-botic complications of heparin-induced thrombocytopenia. Blood 1994; 84: 3691-3699
29. Lee YJ, Jy W, Horstman LL et al. Elevated platelet microparticles in transient ischemic attacks, lacunar infarcts, and multiinfarct dementias. Thromb Res 1993; 72: 295-304
30. Katopodis JN, Kolodny L, Jy W et al. Platelet microparticles and calcium homeostasis in acute coronary ischemias. AmJHematol1997; 54: 95-101
31. Mallat Z, Benamer H,HugelB et al. Elevated levels of shed membrane microparticles with procoagulant potential in the peripheral circulating blood of patients with acute coronary syndromes. Circulation 2000; 101: 841-843
32. Sims PJ, Wiedmer T, Esmon CT et al. Assembly of the platelet pro-thrombinase complex is linked to vesiculation of the platelet plasma membrane. Studies in Scott syndrome: an isolated defect in platelet procoagulant activity. J Biol Chem 1989; 264: 17049-17057
33. Nieuwland R, Berckmans RJ, Rotteveel-Eijkman RC et al. Cell-derived microparticles generated in patients during cardiopulmonary bypass are highly procoagulant. Circulation 1997; 96: 3534-3541
34. Nieuwland R, Berckmans RJ, McGregor S et al. Cellular origin and procoagulant properties of microparticles in meningococcal sepsis. Blood 2000; 95: 930-935
35. Berckmans RJ, Neiuwland R, Boing AN et al. Cell-derived micropar-ticles circulate in healthy humans and support low grade thrombin generation. Thromb Haemost 2001; 85: 639-646
36. Jy W, Mao WW, Horstman L et al. Platelet microparticles bind, activate and aggregate neutrophils in vitro. Blood Cells Mol Dis 1995; 21: 217-231
37. Barry OP, Pratico D, Lawson JA et al. Transcellular activation of platelets and endothelial cells by bioactive lipids in platelet micropar-ticles. J Clin Invest 1997; 99: 2118-2127
38. Forlow SB, McEver RP, Nollert MU. Leukocyte-leukocyte interactions mediated by platelet microparticles under flow. Blood 2000; 95: 1317-1323
39. Mause SF, von Hundelshausen P, Zernecke A et al. Platelet micropar-ticles: a transcellular delivery system for RANTES promoting mono-cyte recruitmentonendothelium.Arterioscler Thromb Vasc Biol 2005; 25: 1512-1518
40. Nauta AJ, Trouw LA, Daha MR et al. Direct binding of C1q to apoptotic cells and cell blebs induces complement activation. Eur J Immunol 2002; 32: 1726-1736
41. Gasser O, Schifferli JA. Microparticles released by human neutrophils adhere to erythrocytes in the presence of complement. Exp Cell Res 2005; 307: 381-387
42. Biro E, Lok CA, Hack CE et al. Cell-derived microparticles and complement activation inpreeclampsia versus normal pregnancy. Placenta 2007; 28: 928-935
43. Biro E, Nieuwland R, Tak PP et al. Activated complement components and complement activator molecules on the surface of cell-derived microparticles in patients with rheumatoid arthritis and healthy individuals. Ann Rheum Dis 2007; 66: 1085-1092
44. Biró É, Nieuwland R, Sturk A. Measuring circulating cell-derived microparticles. J Thromb Haemost 2004; 2: 1843-1844
45. Cejka J. Enzyme immunoassay for factor VIII-related antigen. Clin Chem 1982; 28: 1356-1358
46. Whybra C, Kampmann C, Krummenauer F et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the responseofpatientstoenzyme replacement therapy. Clin Genet 2004; 65: 299-307
47. K/DOQI. Clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification. Am J Kidney Dis 2002; 39: S1-S266
48. Moore DF, Krokhin OV, Beavis RC et al. Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci USA 2007; 104: 8065-8070
49. Vedder AC, Linthorst GE, Houge G et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. Plos ONE 2007; 2: e598
50. Igarashi T, Sakuraba H, Suzuki Y. Activation of platelet function in Fabry's disease. Am J Hematol 1986; 22: 63-67
51. Mercier E, Branger B, Vecina F et al. Tissue factor coagulation pathway and blood cells activation state in renal insufficiency. Hematol J 2001; 2: 18-25
52. Malyszko J, Malyszko JS, Mysliwiec M. Endothelial cell injury markers in chronic renal failure on conservative treatment and continuous ambulatory peritoneal dialysis. Kidney Blood Press Res 2004; 27: 71-77
53. Cetin O, Bekpinar S, Unlucerci Y et al. Hyperhomocysteinemia in chronic renal failure patients: relation to tissue factor and platelet aggregation. Clin Nephrol 2006; 65: 97-102
54. Sirolli V, Ballone E, Garofalo D et al. Platelet activation markers in patients with nephrotic syndrome. A comparative study of different platelet function tests. Nephron 2002; 91: 424-430