Vitamin K-Dependent Coagulation Factors Deficiency

被引：52

作者：

Brenner, Benjamin ^{[1
,2
]}

Kuperman, Amir A. ^{[1
,2
]}

Watzka, Matthias ^{[3
]}

Oldenburg, Johannes ^{[3
]}

机构：

[1] Technion Israel Inst Technol, Bruce Rappaport Fac Med, IL-31096 Haifa, Israel

[2] Technion Israel Inst Technol, Thrombosis & Hemostasis Unit, Inst Hematol, Rambam Med Ctr, Haifa, Israel

[3] Univ Clin Bonn, Inst Expt Haematol & Transfus Med, Bonn, Germany

来源：

SEMINARS IN THROMBOSIS AND HEMOSTASIS | 2009年 / 35卷 / 04期

关键词：

Vitamin K-dependent coagulation factors deficiency (VKCFD); gamma-glutamyl carboxylase (GGCX); vitamin K epoxide reductase (VKOR); GAMMA-GLUTAMYL-CARBOXYLASE; CONGENITAL COMBINED DEFICIENCY; WARFARIN-RESISTANCE; EPOXIDE-REDUCTASE; FACTOR-VII; FACTOR-II; FACTOR-IX; HEREDITARY-DEFICIENCY; BINDING-SITE; FACTOR-X;

D O I：

10.1055/s-0029-1225766

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

All vitamin K-dependent coagulation factors require normal function of gamma-glutamyl carboxylase and vitamin K epoxide reductase enzyme complex (VKORC1.). Heritable dysfunction of gamma-glutamyl carboxylase or of the VKORC1 complex results in the secretion of poorly carboxylated vitamin K-dependent proteins that play a role In coagulation. The following review will summarize the clinical manifestations of vitamin K-dependent coagulation factors deficiency I and II and will provide a detailed explanation about the gene and protein structure, the function of the protein, and an analysis of the previously reported mutations. Laboratory assays used for diagnosis will be discussed, and treatment for various clinical settings will be recommended.

引用

页码：439 / 446

页数：8

共 64 条

[1]

BELL R G, 1970, Archives of Biochemistry and Biophysics, V141, P473, DOI 10.1016/0003-9861(70)90164-5

[2] Congenital vitamin K-dependent coagulation factor deficiency: a case report [J].

Bhattacharyya, J ;

Dutta, P ;

Mishra, P ;

Dixit, A ;

Srinivas, U ;

Kannan, M ;

Kumar, R ;

Choudhry, VP ;

Saxena, R .

BLOOD COAGULATION & FIBRINOLYSIS, 2005, 16 (07) :525-527

[3] The rare coagulation disorders - review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation [J].

Bolton-Maggs, PHB ;

Perry, DJ ;

Chalmers, EA ;

Parapia, LA ;

Wilde, JT ;

Williams, MD ;

Collins, PW ;

Kitchen, S ;

Dolan, G ;

Mumford, AD .

HAEMOPHILIA, 2004, 10 (05) :593-628

[4]

Boneh A, 1996, AM J MED GENET, V65, P241, DOI 10.1002/(SICI)1096-8628(19961028)65:3<241::AID-AJMG13>3.0.CO

[5]

2-O

[6] HEREDITARY-DEFICIENCY OF ALL VITAMIN-K-DEPENDENT PROCOAGULANTS AND ANTICOAGULANTS [J].

BRENNER, B ;

TAVORI, S ;

ZIVELIN, A ;

KELLER, CB ;

SUTTIE, JW ;

TATARSKY, I ;

SELIGSOHN, U .

BRITISH JOURNAL OF HAEMATOLOGY, 1990, 75 (04) :537-542

[7] A missense mutation in γ-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors [J].

Brenner, B ;

Sánchez-Vega, B ;

Wu, SM ;

Lanir, N ;

Stafford, DV ;

Solera, J .

BLOOD, 1998, 92 (12) :4554-4559

[8] Purified vitamin K epoxide reductase alone is sufficient for conversion of vitamin K epoxide to vitamin K and vitamin K to vitamin KH2 [J].

Chu, Pei-Hsuan ;

Huang, Teng-Yi ;

Williams, Jason ;

Stafford, D. W. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (51) :19308-19313

[9] Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency [J].

Darghouth, Dhouha ;

Hallgren, Kevin W. ;

Shtofman, Rebecca L. ;

Mrad, Amel ;

Gharbi, Youssef ;

Maherzi, Ahmed ;

Kastally, Radhia ;

LeRicousse, Sophie ;

Berkner, Kathleen L. ;

Rosa, Jean-Philippe .

BLOOD, 2006, 108 (06) :1925-1931

[10] COMBINED DEFICIENCY OF COAGULATION FACTOR-II, FACTOR-VII, FACTOR-IX, AND FACTOR-X - A CASE OF PROBABLE CONGENITAL ORIGIN [J].

EKELUND, H ;

LINDEBERG, L ;

WRANNE, L .

PEDIATRIC HEMATOLOGY AND ONCOLOGY, 1986, 3 (02) :187-193

← 1 2 3 4 5 6 7 →