Plasma therapy in von Willebrand factor protease deficiency.
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.
Deschênes
Georges
G
Unité de Néphrologie Pédiatrique, Hôpital Gatien de Clocheville, 49 Boulevard Béranger, 37044 Tours, France. georges.deschenes@trs.ap-hop-paris.fr
Veyradier
Agnès
A
Cloarec
Sylvie
S
Benoit
Stéphane
S
Desbois
Isabelle
I
Gruel
Yves
Y
Nivet
Hubert
H
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
D014841:von Willebrand Factor