Tags

Type your tag names separated by a space and hit enter

Congenital deficiency of blood clotting factors II, VII, IX, and X.

Abstract

A patient congenitally deficient in factors II, VII, IX, and X has been further investigated after a follow-up of 15 yr. At birth, these factors, when determined by clotting assays, were undetectable. Following therapy with vitamin K1, the clotting activity of these factors rose but never exceeded 18% of normal. Immunologic assays revealed much higher levels of these factors than did clotting assays, thus suggesting that the vitamin-K-dependent factors were present in abnormal forms. Two-dimensional crossed immunoelectrophoresis showed that at least two forms of prothrombin were present in the patient's plasma. One form was similar to normal prothrombin; the other had the same mobility as acarboxyprothrombin. In addition, the majority of this fast-migrating peak was not adsorbable onto insoluble barium salts. These observations suggested that some molecules of the patient's prothrombin lacked the normal complement of gamma-carboxyglutamic acid residues. This observation was confirmed by a specific assay for gamma-carboxyglutamate. Since malabsorption of vitamin K, warfarin intoxication, and hepatic dysfunction were excluded as causes of this patient's syndrome, this rare congenital abnormality could represent either a defective gamma-carboxylation mechanism within the hepatocyte or faulty vitamin K transport.

Links

  • FREE Publisher Full Text
  • Authors

    , , , , ,

    Source

    Blood 53:4 1979 Apr pg 776-87

    MeSH

    Adolescent
    Blood Coagulation Tests
    Chromatography, Thin Layer
    Factor X Deficiency
    Female
    Hemophilia B
    Humans
    Hypoprothrombinemias
    Immunoelectrophoresis, Two-Dimensional
    Neutralization Tests
    Vitamin K

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    426915

    Citation

    Chung, K S., et al. "Congenital Deficiency of Blood Clotting Factors II, VII, IX, and X." Blood, vol. 53, no. 4, 1979, pp. 776-87.
    Chung KS, Bezeaud A, Goldsmith JC, et al. Congenital deficiency of blood clotting factors II, VII, IX, and X. Blood. 1979;53(4):776-87.
    Chung, K. S., Bezeaud, A., Goldsmith, J. C., McMillan, C. W., Ménaché, D., & Roberts, H. R. (1979). Congenital deficiency of blood clotting factors II, VII, IX, and X. Blood, 53(4), pp. 776-87.
    Chung KS, et al. Congenital Deficiency of Blood Clotting Factors II, VII, IX, and X. Blood. 1979;53(4):776-87. PubMed PMID: 426915.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Congenital deficiency of blood clotting factors II, VII, IX, and X. AU - Chung,K S, AU - Bezeaud,A, AU - Goldsmith,J C, AU - McMillan,C W, AU - Ménaché,D, AU - Roberts,H R, PY - 1979/4/1/pubmed PY - 1979/4/1/medline PY - 1979/4/1/entrez SP - 776 EP - 87 JF - Blood JO - Blood VL - 53 IS - 4 N2 - A patient congenitally deficient in factors II, VII, IX, and X has been further investigated after a follow-up of 15 yr. At birth, these factors, when determined by clotting assays, were undetectable. Following therapy with vitamin K1, the clotting activity of these factors rose but never exceeded 18% of normal. Immunologic assays revealed much higher levels of these factors than did clotting assays, thus suggesting that the vitamin-K-dependent factors were present in abnormal forms. Two-dimensional crossed immunoelectrophoresis showed that at least two forms of prothrombin were present in the patient's plasma. One form was similar to normal prothrombin; the other had the same mobility as acarboxyprothrombin. In addition, the majority of this fast-migrating peak was not adsorbable onto insoluble barium salts. These observations suggested that some molecules of the patient's prothrombin lacked the normal complement of gamma-carboxyglutamic acid residues. This observation was confirmed by a specific assay for gamma-carboxyglutamate. Since malabsorption of vitamin K, warfarin intoxication, and hepatic dysfunction were excluded as causes of this patient's syndrome, this rare congenital abnormality could represent either a defective gamma-carboxylation mechanism within the hepatocyte or faulty vitamin K transport. SN - 0006-4971 UR - https://www.unboundmedicine.com/medline/citation/426915/Congenital_deficiency_of_blood_clotting_factors_II_VII_IX_and_X_ L2 - http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=426915 DB - PRIME DP - Unbound Medicine ER -