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

Background: Underlying thrombophilic disorders increase the risk of early allograft loss after renal transplantation. We report three cases of early graft thrombosis in two carriers of a recently discovered prothrombotic variation of the prothrombin gene.

Case Reports: The first patient, an adolescent girl, developed multiple thrombotic shunt occlusions after the initiation of hemodialysis until continuous cumarin anticoagulation was instituted. During living-related kidney transplantation, peracute thrombosis of the renal arteries and veins occurred during surgery despite excellent intraoperative conditions and continuous low-dose heparinization. A few hours after reperfusion of the organ by immediate thrombectomy and intrarenal fibrinolysis, an irreversible rethrombosis occurred. A detailed evaluation of the coagulation system showed highly elevated prothrombin protein activity and concentrations. A heterozygous G-->A transition at position 20210 of the prothrombin gene was identified. Hemodialysis was resumed using recombinant hirudin, a direct and selective thrombin inhibitor, as an anticoagulant. The second patient, a girl with end-stage renal failure due to atypical hemolytic uremic syndrome, lost two cadaver kidney allografts, each time by massive thrombosis a few days after transplantation. In this patient also, elevated prothrombin activity and concentrations were present and a heterozygous G-->A transition at position 2210 of the prothrombin gene was detected.

Conclusions: The prothrombin gene mutation is a new risk factor for thrombotic complications both on hemodialysis and after renal transplantation. It may be useful to screen for this disorder in the pretransplant thrombophilia work-up.