Abstract
A child with chronic relapsing thrombotic thrombocytopenic purpura (TTP/HUS) had recurrent thrombocytopenia, microangiopathic hemolytic anemia with fragmented erythrocytes, microthrombi in the lung vessels, and renal dysfunction. Assay of von Willebrand factor (vWF)-cleaving protease showed a complete protease deficiency in the patient and subnormal activities in the mother and in two asymptomatic siblings. No inhibitor of vWF-cleaving protease was detected in the patient’s plasma. Periodic transfusions of fresh-frozen plasma prevented further acute episodes of TTP/HUS. Specific diagnosis of the constitutional deficiency of vWF-cleaving protease helps to provide successful prophylactic therapy.
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Received: 17 August 1999 / Revised: 13 December 1999 / Accepted: 14 December 1999
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te Loo, D., Levtchenko, E., Furlan, M. et al. Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency. Pediatr Nephrol 14, 762–765 (2000). https://doi.org/10.1007/PL00013432
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DOI: https://doi.org/10.1007/PL00013432