论文信息 - A family of congenital antithrombin III deficiency

A family of congenital antithrombin III deficiency

A family of inherited antithrombin III (AT III) deficiency was reported. Propositus was a 42-year-old man with 10-year history of deep vein thrombosis and cerebral thromboembolism. AT III was assayed for his family members in three consecutive generations by single radial immunodiff usion, electroimmunoassay by Laurell, progressive antithrombin activity by thrombin clotting time and chromogenic assay using S-2238.A significant decrease of plasma AT III levels with low activity was found in 8 (47%) out of 17 members investigated.Five (63%) of them had recurrent episodes of deep vein thrombosis of extremities and/or cerebral thromboembolism, mesenterial thrombosis and pulmonary embolism.In two dimensional crossed immunoelectrophoresis, mobility of their AT III in the heparinized agarose gel was identical with that of normal control.Thus, the family is classified as type I by Nagy or type Ia by Sas.

A. Takaki | M. Nishiyama | S. Takeda | K. Ohsato | H. Katoh

[1] G. Blaskó,et al. Heterogeneity of the "Classical" Antithrombin III Deficiency , 1980, Thrombosis and Haemostasis.

[2] H. Losonczy,et al. An analysis of clinical and laboratory data in patients with congenital antithrombin III (AT III) deficiency. , 1979, Acta medica Academiae Scientiarum Hungaricae.

[3] B. Bennett,et al. Familial thrombosis: inherited deficiency of antithrombin III. , 1978, British medical journal.

[4] E. Henningsson,et al. Crossed immunoelectrophoresis as applied to studies on complex formation. The binding of heparin to antithrombin III and the antithrombin III--thrombin complex. , 1977, Journal of immunological methods.

[5] U. Abildgaard,et al. Assay of Progressive Antithrombin in Plasma , 1970, Thrombosis and Haemostasis.

[6] C. Laurell,et al. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. , 1966, Analytical biochemistry.

[7] J. Heremans,et al. Immunochemical quantitation of antigens by single radial immunodiffusion. , 1965, Immunochemistry.

[8] O. Egeberg. Inherited Antithrombin Deficiency Causing Thrombophilia , 1965, Thrombosis and Haemostasis.