Kongenitaler kombinierter Mangel der Faktoren II, VII und X

Fischer, Martin R.; Zweymüller, E

doi:10.1007/bf01886321

Cited by 13 publications

(7 citation statements)

References 8 publications

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“…An inborn error of vitamin K utilization was assumed and oral vitamin K therapy ini tiated which resulted in resolution of clinical symptoms and partial correction of vitamin K dependent clotting parameters. From these data it seems likely that this boy had a combined coagulopathy secondary to abnor malities of vitamin K. handling as has been previously reported in 6 other individuals [8][9][10][11][12],…”

Section: Introductionsupporting

confidence: 54%

Mechanism of Bone and Cartilage Maldevelopment in the Warfarin Embryopathy

Pauli¹

1988

Path Immunopathol Res

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Section: Introductionsupporting

confidence: 54%

Mechanism of Bone and Cartilage Maldevelopment in the Warfarin Embryopathy

Pauli¹

1988

Path Immunopathol Res

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“…An additional patient with deficiencies of all four vitamin 1 Abbreviations used in this paper: BCS, barbital-citratesaline buffer; Gla, y-carboxyglutamic acid; RVV, Russell's viper venom; SDS-PAGE, sodium dodecyl sulfate polyacrylamide gel electrophoresis. K-dependent factors was less extensively characterized (20).…”

mentioning

confidence: 99%

Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors.

Goldsmith¹,

Pence²,

Ratnoff³

et al. 1982

J. Clin. Invest.

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A B S T R A C T Two siblings with mild 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) 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-y-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 KI.

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“…The only condition which seems to be an indipendent nosological entity is combined deficiency of factors V and VIII. About 20 patients with such a peculiar defect have already been satisfactorily docu mented [9,12,17,[24][25][26][27], Similar considerations could be formulated for combined deficiencies of the prothrombin complex factors [4,23]. But the matter is still disputed particularly because only 2 cases have been described and because the defect seemed to be correctable almost completely by parenteral administration of vitamin K [4,23], Therefore, the possibility of an acquired defect secondary to impaired vitamin K adsorption remains open.…”

mentioning

confidence: 99%

“…About 20 patients with such a peculiar defect have already been satisfactorily docu mented [9,12,17,[24][25][26][27], Similar considerations could be formulated for combined deficiencies of the prothrombin complex factors [4,23]. But the matter is still disputed particularly because only 2 cases have been described and because the defect seemed to be correctable almost completely by parenteral administration of vitamin K [4,23], Therefore, the possibility of an acquired defect secondary to impaired vitamin K adsorption remains open. A separate consideration is perhaps indicated for the combined deficiency of factors VII and X together with carotid body tumors described in several members of a large kindred [20], The cases of hemophilia B with associated factor VII deficiency are also doubtful since they could represent cases of hemophilia Bm [15,28], Combined deficiency of factors VII and VIII has been satisfactorily documented only in 1 patient [5] and suspected in 3 additional cases [2,19].…”

mentioning

confidence: 99%

Combined Hereditary Deficiency of Factors VII and VIII

Girolami¹,

Venturelli²,

Cella³

et al. 1976

Acta Haematol

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A patient with a combined hereditary deficiency of factors VII and VIII is presented together with a family study. The main bleeding manifestations were easy bruising and bleeding after tooth extractions. No hemarthrosis was ever observed. The main laboratory features consisted in a mild prolongation of prothrombin time and of partial thromboplastin time. TG test was abnormal and was corrected by the addition of adsorbed normal plasma. Specific assays revealed a moderate defect of factors VII and VIII. All other clotting factors were within normal limits. The factor VII antigen in the propositus was normal or nearly normal. The factor- VIII-associated antigen was also normal. Five additional family members presented the same coagulation pattern and were variably symptomatic. The hereditary transmission pattern seems to be autosomal dominant. The defect appears to be due to a structural abnormality of a gene controlling factors VII and VIII activation.

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Kongenitaler kombinierter Mangel der Faktoren II, VII und X

Cited by 13 publications

References 8 publications

Mechanism of Bone and Cartilage Maldevelopment in the Warfarin Embryopathy

Mechanism of Bone and Cartilage Maldevelopment in the Warfarin Embryopathy

Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors.

Combined Hereditary Deficiency of Factors VII and VIII

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