Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-07

AUTHORS

D. M. W. M. te Loo, E. Levtchenko, M. Furlan, G. P. M. Roosendaal, L. P. W. J. van den Heuvel

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. More... »

PAGES

762-765

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/pl00013432

DOI

http://dx.doi.org/10.1007/pl00013432

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1040987172

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10955922


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206 grid-institutes:grid.10417.33 schema:alternateName Department of Pediatrics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands e-mail: B.vandeHeuvel@ckslkn.azn.nl Tel.: +31-24-3617983, Fax: +31-24-3616428, NL
207 schema:name Department of Pediatrics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands e-mail: B.vandeHeuvel@ckslkn.azn.nl Tel.: +31-24-3617983, Fax: +31-24-3616428, NL
208 rdf:type schema:Organization
209 grid-institutes:grid.411656.1 schema:alternateName Central Hematology Laboratory, University Hospital Inselspital, Bern, Switzerland, CH
210 schema:name Central Hematology Laboratory, University Hospital Inselspital, Bern, Switzerland, CH
211 rdf:type schema:Organization
 




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