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Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors.
J Clin Invest 1982; 69(6):1253-60JCI

Abstract

Two siblings with m ild hemorrhagic symptoms had combined functional deficiencies of vitamin K-dependent clotting factors. Prothrombin (0.18-0.20 U/ml) and Stuart factor (Factor X, 0.18-0.20 U/ml) and Stuart factor (Factor X, 0.18-0.20 U/ml) were most severely affected. Antigenic amounts of affected coagulation factors were normal and normal generation of thrombin activity occurred in the patients' plasmas after treatment with nonophysiologic activators that do not require calcium for prothrombin activation. Hepatobilary disease, malabsorptive disorders, and plasma warfarin were not present. Both parents had normal levels of all coagulation factors. The patients' plasmas contained prothrombin that reacted both with antibody directed against des-gamma-carboxyprothrombin and native prothrombin. Crossed immunoelectrophoresis of patients' plasmas and studies of partially purified patient prothrombin suggested the presence of a relatively homogeneous species of dysfunctional prothrombin, distinct from the heterologous species found in the plasma of warfarin-treated persons. These studies are most consistent with a posttranslational defect in hepatic carboxylation of vitamin K-dependent factors. This kindred uniquely possesses an autosomal recessive disorder of vitamin K-dependent factor formation that causes production of an apparently homogeneous species of dysfunctional prothrombin; the functional deficiencies in clotting factors are totally corrected by oral or parenteral administration of vitamin K1.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7085873

Citation

Goldsmith, G H., et al. "Studies On a Family With Combined Functional Deficiencies of Vitamin K-dependent Coagulation Factors." The Journal of Clinical Investigation, vol. 69, no. 6, 1982, pp. 1253-60.
Goldsmith GH, Pence RE, Ratnoff OD, et al. Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors. J Clin Invest. 1982;69(6):1253-60.
Goldsmith, G. H., Pence, R. E., Ratnoff, O. D., Adelstein, D. J., & Furie, B. (1982). Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors. The Journal of Clinical Investigation, 69(6), pp. 1253-60.
Goldsmith GH, et al. Studies On a Family With Combined Functional Deficiencies of Vitamin K-dependent Coagulation Factors. J Clin Invest. 1982;69(6):1253-60. PubMed PMID: 7085873.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors. AU - Goldsmith,G H,Jr AU - Pence,R E, AU - Ratnoff,O D, AU - Adelstein,D J, AU - Furie,B, PY - 1982/6/1/pubmed PY - 2001/3/28/medline PY - 1982/6/1/entrez SP - 1253 EP - 60 JF - The Journal of clinical investigation JO - J. Clin. Invest. VL - 69 IS - 6 N2 - Two siblings with m ild hemorrhagic symptoms had combined functional deficiencies of vitamin K-dependent clotting factors. Prothrombin (0.18-0.20 U/ml) and Stuart factor (Factor X, 0.18-0.20 U/ml) and Stuart factor (Factor X, 0.18-0.20 U/ml) were most severely affected. Antigenic amounts of affected coagulation factors were normal and normal generation of thrombin activity occurred in the patients' plasmas after treatment with nonophysiologic activators that do not require calcium for prothrombin activation. Hepatobilary disease, malabsorptive disorders, and plasma warfarin were not present. Both parents had normal levels of all coagulation factors. The patients' plasmas contained prothrombin that reacted both with antibody directed against des-gamma-carboxyprothrombin and native prothrombin. Crossed immunoelectrophoresis of patients' plasmas and studies of partially purified patient prothrombin suggested the presence of a relatively homogeneous species of dysfunctional prothrombin, distinct from the heterologous species found in the plasma of warfarin-treated persons. These studies are most consistent with a posttranslational defect in hepatic carboxylation of vitamin K-dependent factors. This kindred uniquely possesses an autosomal recessive disorder of vitamin K-dependent factor formation that causes production of an apparently homogeneous species of dysfunctional prothrombin; the functional deficiencies in clotting factors are totally corrected by oral or parenteral administration of vitamin K1. SN - 0021-9738 UR - https://www.unboundmedicine.com/medline/citation/7085873/Studies_on_a_family_with_combined_functional_deficiencies_of_vitamin_K_dependent_coagulation_factors_ L2 - https://doi.org/10.1172/jci110564 DB - PRIME DP - Unbound Medicine ER -