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
收藏
页码：439 / 446
页数：8
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