التفاصيل البيبلوغرافية
| العنوان: |
Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency. |
| المؤلفون: |
te Loo, D. M. W. M., Levtchenko, E., Furlan, M., Roosendaal, G. P. M., van den Heuvel, L. P. W. J. |
| المصدر: |
Pediatric Nephrology. Aug2000, Vol. 14 Issue 8/9, p762-765. 4p. |
| مصطلحات موضوعية: |
*THROMBOTIC thrombocytopenic purpura, *JUVENILE diseases, *VON Willebrand factor |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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