Protein S deficiency: a clinical perspective

被引：129
作者：
Ten Kate, M. K. [1 ]
Van der Meer, J. [1 ]
机构：
[1] Univ Groningen, Univ Med Ctr Groningen, Div Haemostasis Thrombosis & Rheol, Dept Hematol, NL-9713 GZ Groningen, Netherlands
来源：
HAEMOPHILIA | 2008年 / 14卷 / 06期
关键词：
PROS1; protein S; protein S deficiency; review; thrombosis; venous thromboembolism;
D O I：
10.1111/j.1365-2516.2008.01775.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Protein S (PS) is an extensively studied protein with an important function in the down-regulation of thrombin generation. Because of the presence of a pseudogene and two different forms of PS in plasma, a bound and a free form, it is one of the most difficult thrombophilias to study. A deficiency of PS predisposes subjects to (recurrent) venous thromboembolism (VTE) and foetal loss. However, the conundrum of diagnosing PS deficiency has led to conflicting reports of PS as a risk factor for VTE. In this review, we aim to present a clinical perspective of PS deficiency.
引用
收藏
页码：1222 / 1228
页数：7
相关论文
共 34 条
[1]   The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population [J].
Beauchamp, NJ ;
Dykes, AC ;
Parikh, N ;
Tait, RC ;
Daly, ME .
BRITISH JOURNAL OF HAEMATOLOGY, 2004, 125 (05) :647-654
[2]  
BERTINA RM, 1990, BLOOD, V76, P538
[3]   Molecular diversity and thrombotic risk in Protein S deficiency: The PROSIT study [J].
Biguzzi, E ;
Razzari, C ;
Lane, DA ;
Castaman, G ;
Cappellari, A ;
Bucciarelli, P ;
Fontana, G ;
Margaglione, M ;
D'Andrea, G ;
Simmonds, RE ;
Rezende, SM ;
Preston, R ;
Prisco, D ;
Faioni, EM .
HUMAN MUTATION, 2005, 25 (03) :259-269
[4]   The pathogenesis of venous thromboembolism: Evidence for multiple interrelated causes [J].
Brouwer, Jan-Leendert P. ;
Veeger, Nic J. G. M. ;
Kluin-Nelemans, Hanneke C. ;
van der Meer, Jan .
ANNALS OF INTERNAL MEDICINE, 2006, 145 (11) :807-815
[5]   Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test-based classification [J].
Brouwer, JLP ;
Veeger, NJGM ;
van der Schaaf, W ;
Kluin-Nelemans, HC ;
van der Meer, J .
BRITISH JOURNAL OF HAEMATOLOGY, 2005, 128 (05) :703-710
[6]   Incidence of thrombophilia detected in southern Taiwanese patients with venous thrombosis [J].
Chen, TY ;
Su, WC ;
Tsao, CJ .
ANNALS OF HEMATOLOGY, 2003, 82 (02) :114-117
[7]  
DAHLBACK B, 1986, J BIOL CHEM, V261, P2022
[8]   The tale of protein S and C4b-binding protein, a story of affection [J].
Dahlback, Bjorn .
THROMBOSIS AND HAEMOSTASIS, 2007, 98 (01) :90-96
[9]   Molecular basis of protein S deficiency [J].
De Frutos, Pablo Garcia ;
Fuentes-Prior, Pablo ;
Hurtado, Begona ;
Sala, Nuria .
THROMBOSIS AND HAEMOSTASIS, 2007, 98 (03) :543-556
[10]   The constitutive expression of anticoagulant protein S is regulated through multiple binding sites for Sp1 and Sp3 transcription factors in the protein S gene promoter [J].
de Wolf, Cornelia J. F. ;
Cupers, Rosemiek M. J. ;
Bertina, Rogier M. ;
Vos, Hans L. .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2006, 281 (26) :17635-17643
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