Successful kidney transplantation in a patient with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

BACKGROUND: Congenital thrombotic thrombocytopenic purpura (TTP) may not be recognized until organ failure related to the microvascular thrombosis occurs. Kidney failure may be the initial presenting clinical feature. Kidney transplantation has been contraindicated because of the assumption that the continuing microvascular thrombosis will cause inevitable graft failure. CASE REPORT: We report a 48-year-old nulliparous woman who presented with end-stage kidney disease that was attributed to hypertension. Her past history included a thromboembolic stroke at age 32, for which she was placed on permanent anticoagulation. Immediately after living unrelated-donor kidney transplant, she developed severe hemolysis and acute decline in urine output for which she received red blood cell and platelet transfusions and an infusion of eculizumab (1200 mg). She promptly responded and was discharged on her fifth postoperative day with a serum creatinine level of 1.0 mg/dL. Two weeks later, thrombocytopenia and hemolysis recurred. By this time, undetectable ADAMTS13 activity (<5%) with no demonstrable inhibitor had been reported. She responded rapidly to plasma infusions. Genetic analysis confirmed the diagnosis of congenital TTP, documenting known pathogenic mutations in each of the ADAMTS13 genes. She continued to receive twice-monthly infusions for 4 months. Surveillance kidney biopsies at 6 and 12 months posttransplant demonstrated no evidence of thrombotic microangiopathy or graft rejection. After 2 years of follow-up her creatinine remains stable at 1.0 mg/dL (estimated glomerular filtration rate, 65 mL/min/1.73 m2 ).
CONCLUSION: Our experience suggests that kidney transplantation may be an appropriate management for carefully selected patients with congenital TTP who develop end-stage renal disease.