title: Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency.
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.
authors.affiliation: Department of Pediatrics, University Hospital Nijmegen, The Netherlands.
authors.forename: D M
authors.initials: DM
authors.lastname: te Loo
authors.forename: E
authors.initials: E
authors.lastname: Levtchenko
authors.forename: M
authors.initials: M
authors.lastname: Furlan
authors.forename: G P
authors.initials: GP
authors.lastname: Roosendaal
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
mesh_terms: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics; D016913:Blood Component Transfusion; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D011652:Pulmonary Circulation; D011697:Purpura, Thrombotic Thrombocytopenic / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D013921:Thrombocytopenia / Q000201:enzymology / Q000235:genetics; D014841:von Willebrand Factor / Q000378:metabolism
chemical_list: D014841:von Willebrand Factor; D051722:ADAM Proteins; D008666:Metalloendopeptidases; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human