Pediatric Nephrology

, Volume 14, Issue 8, pp 762–765

Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency

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

DOI: 10.1007/PL00013432

Cite this article as:
te Loo, D., Levtchenko, E., Furlan, M. et al. Pediatr Nephrol (2000) 14: 762. doi:10.1007/PL00013432

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.

Key words Chronic relapsing thrombotic thrombocytopenic purpuravon Willebrand factor-cleaving protease deficiencyAutosomal recessive inheritanceTherapy

Copyright information

© IPNA - International Pediatric Nephrology Association New York, USA 2000

Authors and Affiliations

  • D. M. W. M. te Loo
    • 1
  • E. Levtchenko
    • 1
  • M. Furlan
    • 2
  • G. P. M. Roosendaal
    • 3
  • L. P. W. J. van den Heuvel
    • 1
  1. 1.Department of Pediatrics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands e-mail: B.vandeHeuvel@ckslkn.azn.nl Tel.: +31-24-3617983, Fax: +31-24-3616428NL
  2. 2.Central Hematology Laboratory, University Hospital Inselspital, Bern, SwitzerlandCH
  3. 3.Department of Pediatrics, Diaconessenhuis, Meppel, The NetherlandsNL