Heterozygous prothrombin gene mutation: A new risk factor for early renal allograft thrombosis

Background. Underlying thrombophilic disorders increase the risk of early a llograft loss after renal transplantation. We report three cases of early g raft thrombosis in two carriers of a recently discovered prothrombotic vari ation of the prothrombin gene. Case reports. The first patient, an adolescent girl, developed multiple thr ombotic shunt occlusions after the initiation of hemodialysis until continu ous cumarin anticoagulation was instituted. During living-related kidney tr ansplantat, peracute thrombosis of the renal arteries and veins occurred du ring surgery despite excellent intraoperative conditions and continuous low -dose heparinization, A few hours after reperfusion of the organ by immedia te thrombectomy and intrarenal fibrinolysis, an irreversible rethrombosis o ccurred. A detailed evaluation of the coagulation system showed highly elev ated prothrombin protein activity and concentrations. A heterozygous G-->A transition at position 20210 of the prothrombin gene was identified. Hemodi alysis was resumed using recombinant hirudin, a direct and selective thromb in inhibitor, as an anticoagulant, The second patient, a girl with end-stag e renal failure due to atypical hemolytic uremic syndrome, lost two cadaver kidney allografts, each time by massive thrombosis a few days after transp lantation. In this patient also, elevated pro-thrombin activity and concent rations were present and a heterozygous G-->A transition at position 2210 o f the prothrombin gene was detected. Conclusions. The prothrombin gene mutation is a new risk. factor for thromb otic complications both on hemodialysis and after renal transplantation. It may be useful to screen for this disorder in the pretransplant thrombophil ia work-up.