Probable Dysfunctional Protein S in a Patient with Congenital Heterozygous Protein C Deficiency:A Family Study

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We describe a previously unreported defect of protein S (PS) in proband (34-year-old, male) and his farther, characterized by low levels of cofactor activity for activated protein C(53-56%) contrasting with normal levels of total (101.0-108.7%) and free PS antigen (100.0-103.0%). The distribution of PS between the free form and the form complexed with the complement component C4b-binding protein (C4bp) was normal on crossed immunoelectrophoresis. The proband and his farther also have heterogeneous protein C (PC) deficiency, suffering from deep vein thrombosis (DVT) and pulmonary thromboembolism (PTE). His defects are transmitted in autosomal dominant fashion from his father. Other relatives carrying protein C dificiency (paternal aunt, paternal cousin, sister and nephew) were asymptomatic.We administrated 400mg of Bonzol® for two weeks to his father and investigated serial changes of PC, total PS, free PS, PS activity and C4bp. Laboratory studies showed that PC, total PS, free PS were increased, but C4bp and the ratio (free PS/PS activity) were not changed. These findings suggest that this case is probably a new type defect of protein S and the recurrent thrombotic disease in this family is due to inherited deficiency of protein C and dysfunctional protein S.
一般社団法人日本血栓止血学会の論文