Factor VIII concentrate-responsive thrombocytopenia, hemolytic anemia, and nephropathy. Evidence that factor VIII:von Willebrand factor is involved in its pathogenesis.
A 4-year-old Japanese girl had a congenital disorder that was characterized by recurrent thrombocytopenia, hemolytic anemia, hematuria, and proteinuria, which were repeatedly improved by the infusion of factor VIII concentrate. She developed the similar symptoms within 1 h after 1-desamino-8-D-arginine vasopressin (DDAVP) administration. Coagulation studies 30 and 60 min after DDAVP infusion showed a disappearance of large factor VIII:von Willebrand factor (VIII:vWF) multimers, which was the same abnormality that was observed at acute episodes. There were no significant changes in the plasma levels of 6-keto-prostaglandin F1 alpha and thromboxane B2 before and after DDAVP infusion. These results provide further support that VIII:vWF is directly involved in the pathogenesis of this congenital disorder.
D000743:Anemia, Hemolytic / Q000628:therapy*; D002675:Child, Preschool; D003894:Deamino Arginine Vasopressin / Q000494:pharmacology; D005169:Factor VIII / Q000378:metabolism / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000628:therapy*; D046911:Macromolecular Substances; D012008:Recurrence; D013921:Thrombocytopenia / Q000628:therapy*; D014841:von Willebrand Factor / Q000378:metabolism
D046911:Macromolecular Substances; D014841:von Willebrand Factor; D005169:Factor VIII; D003894:Deamino Arginine Vasopressin