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
相关论文
共 50 条
  • [31] Affinity adsorption of human vitamin K-dependent coagulation factor IX onto heparin-like poly (styrene sodium sulfonate) adsorbent
    Belattar, Noureddine
    MATERIALS SCIENCE & ENGINEERING C-BIOMIMETIC AND SUPRAMOLECULAR SYSTEMS, 2007, 27 (04): : 849 - 854
  • [32] Vitamin K-Dependent γ-Glutamyl Carboxylase in Sertoli Cells Is Essential for Male Fertility in Mice
    Shiba, Sachiko
    Ikeda, Kazuhiro
    Horie-Inoue, Kuniko
    Azuma, Kotaro
    Hasegawa, Tomoka
    Amizuka, Norio
    Tanaka, Tomoaki
    Takeiwa, Toshihiko
    Shibata, Yasuaki
    Koji, Takehiko
    Inoue, Satoshi
    MOLECULAR AND CELLULAR BIOLOGY, 2021, 41 (04)
  • [33] A fluorescent method to determine vitamin K-dependent gamma-glutamyl carboxylase activity
    Kaesler, Nadine
    Schettgen, Thomas
    Mutucumarana, Vasantha P.
    Brandenburg, Vincent
    Jahnen-Dechent, Willi
    Schurgers, Leon J.
    Krueger, Thilo
    ANALYTICAL BIOCHEMISTRY, 2012, 421 (02) : 411 - 416
  • [34] Unique secretion mode of human protein Z: its Gla domain is responsible for inefficient, vitamin K-dependent and warfarin-sensitive secretion
    Souri, Masayoshi
    Iwata, Hiroki
    Zhang, Wei Guang
    Ichinose, Akitada
    BLOOD, 2009, 113 (16) : 3857 - 3864
  • [35] Effect of Vitamin K-dependent Protein Precursor Propeptide, Vitamin K Hydroquinone, and Glutamate Substrate Binding on the Structure and Function of γ-Glutamyl Carboxylase
    Higgins-Gruber, Shannon L.
    Mutucumarana, Vasantha P.
    Lin, Pen-Jen
    Jorgenson, James W.
    Stafford, Darrel W.
    Straight, David L.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (41) : 31502 - 31508
  • [36] VKOR paralog VKORC1L1 supports vitamin K-dependent protein carboxylation in vivo
    Lacombe, Julie
    Rishavy, Mark A.
    Berkner, Kathleen L.
    Ferron, Mathieu
    JCI INSIGHT, 2018, 3 (01):
  • [37] CATHEPSIN G, A REGULATOR OF HUMAN VITAMIN-K, DEPENDENT CLOTTING FACTORS AND INHIBITORS
    TURKINGTON, PT
    THROMBOSIS RESEARCH, 1992, 67 (02) : 147 - 155
  • [38] Diverse biological functions of vitamin K: from coagulation to ferroptosis
    Mishima, Eikan
    Wahida, Adam
    Seibt, Tobias
    Conrad, Marcus
    NATURE METABOLISM, 2023, 5 (06) : 924 - 932
  • [39] EVIDENCE FOR COMPETITION BETWEEN VITAMIN-K-DEPENDENT CLOTTING FACTORS FOR INTRACELLULAR PROCESSING BY THE VITAMIN-K-DEPENDENT GAMMA-CARBOXYLASE
    STANTON, C
    ROSS, P
    HUTSON, S
    WALLIN, R
    THROMBOSIS RESEARCH, 1995, 80 (01) : 63 - 73
  • [40] Quantifying vitamin K-dependent holoprotein compaction caused by differential γ-carboxylation using high-pressure size exclusion chromatography
    Vanderslice, Nicholas C.
    Messer, Amanda S.
    Vadivel, Kanagasabai
    Bajaj, S. Paul
    Phillips, Martin
    Fatemi, Mostafa
    Xu, Weijie
    Velander, William H.
    ANALYTICAL BIOCHEMISTRY, 2015, 479 : 6 - 14
12345