title: Plasma therapy in von Willebrand factor protease deficiency.
abstract: 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.
authors.affiliation: Unité de Néphrologie Pédiatrique, Hôpital Gatien de Clocheville, 49 Boulevard Béranger, 37044 Tours, France. georges.deschenes@trs.ap-hop-paris.fr
authors.forename: Georges
authors.initials: G
authors.lastname: Deschênes
authors.forename: Agnès
authors.initials: A
authors.lastname: Veyradier
authors.forename: Sylvie
authors.initials: S
authors.lastname: Cloarec
authors.forename: Stéphane
authors.initials: S
authors.lastname: Benoit
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desbois
authors.forename: Yves
authors.initials: Y
authors.lastname: Gruel
authors.forename: Hubert
authors.initials: H
authors.lastname: Nivet
mesh_terms: D000293:Adolescent; D002561:Cerebrovascular Disorders / Q000209:etiology / Q000517:prevention & control; D006084:Graft Rejection / Q000517:prevention & control; D006463:Hemolytic-Uremic Syndrome / Q000150:complications / Q000235:genetics / Q000601:surgery; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications / Q000209:etiology / Q000601:surgery; D016030:Kidney Transplantation; D008297:Male; D009392:Nephrectomy; D010949:Plasma; D010951:Plasma Exchange; D010976:Platelet Count; D012008:Recurrence; D014841:von Willebrand Factor / Q000235:genetics* / Q000502:physiology
chemical_list: D014841:von Willebrand Factor