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Plasma therapy in von Willebrand factor protease deficiency

Georges Deschênes1, Agnès Veyradier, Sylvie Cloarec

  • 1Unité de Néphrologie Pédiatrique, Hôpital Gatien de Clocheville, 49 Boulevard Béranger, 37044 Tours, France. georges.deschenes@trs.ap-hop-paris.fr

We report a patient with relapsing hereditary hemolytic uremic syndrome (HUS) that began in the neonatal period with life-threatening jaundice and hemolytic anemia. He progressed to end-stage renal failure at 14 years of age and had a cerebrovascular accident while on dialysis. The cause of HUS was a constitutional deficiency in the von Willebrand factor cleaving protease. Hematological features of HUS significantly improved following bilateral nephrectomy. After renal transplantation, he had an early recurrence of HUS associated with two episodes of retinal and cerebral ischemia. Long-term treatment with fresh-frozen plasma exchanges prevented recurrence of HUS, cerebrovascular attacks, and early loss of the graft.

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