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Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants.

Abstract

Hereditary combined deficiency of vitamin K-dependent factors is a rare entity. We report a 7-year-old girl of Arab origin with hereditary deficiency of the procoagulants factors II, VII, IX and X and the natural anticoagulants proteins C and S. The patient is the tenth offspring of a consanguinous marriage and presented at 6 weeks with spontaneous intracerebral haemorrhage. Symptoms improved following plasma infusion. A sibling died at 5 d from uncontrollable umbilical bleeding. Blood coagulation work-up at 6 years showed: factor II:C (activity) 12 U/dl, factor II:Ag (antigen) 40 U/dl; factor VII:C 12 U/dl; factor IX:C 36 U/dl, factor IX:Ag 57 U/dl; factor X:C 17 U/dl, factor X:Ag 54 U/dl; protein C activity 43 U/dl; protein C:Ag 45 U/dl; protein S:Ag 34 U/dl; levels of factors V:C and VIII:C were normal. Assays of coagulation factors in the parents and five of the siblings were within the normal range. Following acute infection and dilantin therapy procoagulant activity levels were reduced further and were partially increased after vitamin K infusion. Crossed immunoelectrophoresis of prothrombin in the presence of calcium lactate revealed a population of des-carboxyprothrombin. Serum vitamin K epoxide levels were undetectable. The data suggest that the defect in our patient stems from abnormal carboxylation of the vitamin K-dependent proteins and that the mode of inheritance is autosomal recessive.

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  • Authors+Show Affiliations

    ,

    Hematology Institute, Rambam Medical Center, Haifa, Israel.

    , , , , ,

    Source

    British journal of haematology 75:4 1990 Aug pg 537-42

    MeSH

    Blood Coagulation Disorders
    Child
    Factor VII Deficiency
    Factor X Deficiency
    Female
    Glycoproteins
    Hemophilia B
    Hemorrhagic Disorders
    Humans
    Hypoprothrombinemias
    Male
    Pedigree
    Protein C Deficiency
    Protein S
    Vitamin K
    Vitamin K 1

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    2145029

    Citation

    Brenner, B, et al. "Hereditary Deficiency of All Vitamin K-dependent Procoagulants and Anticoagulants." British Journal of Haematology, vol. 75, no. 4, 1990, pp. 537-42.
    Brenner B, Tavori S, Zivelin A, et al. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Br J Haematol. 1990;75(4):537-42.
    Brenner, B., Tavori, S., Zivelin, A., Keller, C. B., Suttie, J. W., Tatarsky, I., & Seligsohn, U. (1990). Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. British Journal of Haematology, 75(4), pp. 537-42.
    Brenner B, et al. Hereditary Deficiency of All Vitamin K-dependent Procoagulants and Anticoagulants. Br J Haematol. 1990;75(4):537-42. PubMed PMID: 2145029.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. AU - Brenner,B, AU - Tavori,S, AU - Zivelin,A, AU - Keller,C B, AU - Suttie,J W, AU - Tatarsky,I, AU - Seligsohn,U, PY - 1990/8/1/pubmed PY - 1990/8/1/medline PY - 1990/8/1/entrez SP - 537 EP - 42 JF - British journal of haematology JO - Br. J. Haematol. VL - 75 IS - 4 N2 - Hereditary combined deficiency of vitamin K-dependent factors is a rare entity. We report a 7-year-old girl of Arab origin with hereditary deficiency of the procoagulants factors II, VII, IX and X and the natural anticoagulants proteins C and S. The patient is the tenth offspring of a consanguinous marriage and presented at 6 weeks with spontaneous intracerebral haemorrhage. Symptoms improved following plasma infusion. A sibling died at 5 d from uncontrollable umbilical bleeding. Blood coagulation work-up at 6 years showed: factor II:C (activity) 12 U/dl, factor II:Ag (antigen) 40 U/dl; factor VII:C 12 U/dl; factor IX:C 36 U/dl, factor IX:Ag 57 U/dl; factor X:C 17 U/dl, factor X:Ag 54 U/dl; protein C activity 43 U/dl; protein C:Ag 45 U/dl; protein S:Ag 34 U/dl; levels of factors V:C and VIII:C were normal. Assays of coagulation factors in the parents and five of the siblings were within the normal range. Following acute infection and dilantin therapy procoagulant activity levels were reduced further and were partially increased after vitamin K infusion. Crossed immunoelectrophoresis of prothrombin in the presence of calcium lactate revealed a population of des-carboxyprothrombin. Serum vitamin K epoxide levels were undetectable. The data suggest that the defect in our patient stems from abnormal carboxylation of the vitamin K-dependent proteins and that the mode of inheritance is autosomal recessive. SN - 0007-1048 UR - https://www.unboundmedicine.com/medline/citation/2145029/Hereditary_deficiency_of_all_vitamin_K_dependent_procoagulants_and_anticoagulants_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-1048&date=1990&volume=75&issue=4&spage=537 DB - PRIME DP - Unbound Medicine ER -