title: Heterozygous prothrombin gene mutation: a new risk factor for early renal allograft thrombosis.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Division of Pediatric Nephrology, University Children's Hospital Heidelberg, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Oh
authors.forename: F
authors.initials: F
authors.lastname: Schaefer
authors.forename: A
authors.initials: A
authors.lastname: Veldmann
authors.forename: G
authors.initials: G
authors.lastname: Nowak
authors.forename: U
authors.initials: U
authors.lastname: Nowak-Göttl
authors.forename: B
authors.initials: B
authors.lastname: Tönshoff
authors.forename: W
authors.initials: W
authors.lastname: Kreuz
mesh_terms: D000293:Adolescent; D000925:Anticoagulants / Q000627:therapeutic use; D002648:Child; D005260:Female; D006579:Heterozygote; D024764:Hirudin Therapy; D006801:Humans; D016030:Kidney Transplantation / Q000009:adverse effects*; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D019851:Thrombophilia / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D013927:Thrombosis / Q000209:etiology*; D013997:Time Factors
chemical_list: D000925:Anticoagulants; D011516:Prothrombin