Hereditary combined deficiency of the vitamin K-dependent clotting factors.

Orphanet Journal of Rare Diseases
Mariasanta NapolitanoM Lapecorella

Abstract

Hereditary combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X as well as natural anticoagulants protein C, protein S and protein Z. The spectrum of bleeding symptoms ranges from mild to severe with onset in the neonatal period in severe cases. The bleeding symptoms are often life-threatening, occur both spontaneously and in a surgical setting, and usually involve the skin and mucosae. A range of non-haemostatic symptoms are often present, including developmental and skeletal anomalies. VKCFD is an autosomal recessive disorder caused by mutations in the genes of either gamma-glutamyl carboxylase or vitamin K2,3-epoxide reductase complex. These two proteins are necessary for gamma-carboxylation, a post-synthetic modification that allows coagulation proteins to display their proper function. The developmental and skeletal anomalies seen in VKCFD are the result of defective gamma-carboxylation of a number of non-haemostatic proteins. Diagnostic differentiation from other conditions, both congenital and acquired, is mandatory and genotype analysis is needed to confirm the defect. Vitamin K administra...Continue Reading

References

Mar 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·S M WuD W Stafford
Aug 1, 1990·British Journal of Haematology·B BrennerU Seligsohn
Jul 1, 1989·Physiological Reviews·P V HauschkaC M Gundberg
Mar 15, 1974·Biochemical Pharmacology·A Zimmermann, J T Matschiner
Jun 9, 1966·The New England Journal of Medicine·C W McMillan, H R Roberts
Jun 1, 1982·The Journal of Clinical Investigation·G H GoldsmithB Furie
Oct 28, 1996·American Journal of Medical Genetics·A Boneh, J Bar-Ziv
Jun 3, 1998·British Journal of Haematology
Feb 15, 2001·Proceedings of the National Academy of Sciences of the United States of America·J D KulmanE W Davie
Apr 4, 2002·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Masaya TamanoAkira Terano
Oct 22, 2003·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Angela Thomas, David Stirling
Feb 7, 2004·Nature·Tao LiDarrel W Stafford
Oct 29, 2004·Journal of Clinical Pathology·J P Hanley
Dec 8, 2004·The Journal of Biological Chemistry·Mayumi SuzukiYasushi Shiratori
Sep 22, 2005·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Jina BhattacharyyaRenu Saxena
Aug 15, 2006·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Simone RostJohannes Oldenburg
Aug 31, 2007·American Journal of Hematology·Cindy A LeissingerBruce Ewenstein
Feb 6, 2008·Journal of Neuroimmune Pharmacology : the Official Journal of the Society on NeuroImmune Pharmacology·Christian GrommesGary E Landreth
Mar 5, 2008·Journal of Thrombosis and Haemostasis : JTH·G MarchettiF Bernardi
Jan 15, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·B W Weston, P E Monahan
Jan 16, 2009·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Mario LapecorellaGuglielmo Mariani
Jan 20, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·P J Robson, A D Mumford
Apr 9, 2009·Journal of Nutritional Science and Vitaminology·Noriko KoitayaYoshiko Ishimi

❮ Previous
Next ❯

Citations

Aug 9, 2012·Current Opinion in Hematology·Loan Hsieh, Diane Nugent
May 22, 2013·Reproduction : the Official Journal of the Society for the Study of Fertility·Wassim Y AlmawiAhmad W Almawi
Dec 15, 2015·Journal of Thrombosis and Haemostasis : JTH·J-K Tie, D W Stafford
Oct 31, 2012·Pediatric Blood & Cancer·Paula H B Bolton-Maggs
Oct 25, 2016·The Journal of Investigative Dermatology·Da-Yun JinJian-Ke Tie
Mar 30, 2017·Journal of Clinical Medicine·Mariasanta NapolitanoGuglielmo Mariani
Dec 12, 2018·Journal of Pediatric Hematology/oncology·Hebah S Al Absi, Mohammad F Abdullah
May 10, 2013·European Journal of Anaesthesiology·Sibylle A Kozek-LangeneckerPiet Wyffels
Sep 5, 2014·Pediatric Emergency Care·Rajan AroraNirupama Kannikeswaran
Aug 6, 2015·World Journal of Clinical Cases·Eva Yg De Vilder, Olivier M Vanakker
Sep 30, 2016·Journal of Thrombosis and Haemostasis : JTH·M A DasiJ Corral
Dec 15, 2020·Journal of Thrombosis and Haemostasis : JTH·Xuejie ChenJian-Ke Tie
Aug 3, 2021·Annals of Medicine and Surgery·Mohamad Shadi AlkarrashRawad Alkhoury

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.

Related Papers

Early Human Development
Frank R Greer
Clinical Journal of the American Society of Nephrology : CJASN
John Danziger
Academic Medicine : Journal of the Association of American Medical Colleges
José E Rodríguez
Journal of Thrombosis and Haemostasis : JTH
D W Stafford
© 2021 Meta ULC. All rights reserved