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Title: Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency
Authors: te Loo, D M ×
Levtchenko, Elena
Furlan, M
Roosendaal, GPM
van den Heuvel, Lambertus #
Issue Date: Aug-2000
Publisher: Springer-verlag
Series Title: Pediatric nephrology (Berlin, Germany) vol:14 issue:8-9 pages:762-5
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.
URI: 
ISSN: 0931-041X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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