von Willebrand Disease “ Vicenza ” With Larger - Than - Normal ( Supranormal ) von
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چکیده
When normal volunteers or patients with type I von Willebrand disease (VWD) are given desmopressin (DDAVP). a set of larger-than-normal (supranormal) von Willebrand factor (VWF) multimers. similar to those present in VWFcontaining cells such as platelets megakaryocytes and endothelial cells, appear transiently in postinfusion plasma. In two kindreds with mild lifelong bleeding symptoms transmitted as an autosomal dominant trait, all ten symptomatic members (but none of the five asymptomatic members) had a supranormal multimeric structure for plasma VWF. apparently identical to that seen for postdesmopressin normal plasma. Plasma factor VIII coagulant activity (VIll:C). VWF antigen (VWF:Ag). ristocetin-induced platelet agglutination. and ristocetin cofactor (RiCof) activ-
منابع مشابه
Reduced von Willebrand factor survival in type Vicenza von Willebrand disease.
Type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. Two candidate mutations, G2470A and G3864A at exons 17 and 27, respectively, of the VWF gene were recently reported to be present in this disorder. Four additional families, originating from northeast Italy, with both mutations of type Vicenza VW...
متن کاملvon Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers.
When normal volunteers or patients with type I von Willebrand disease (VWD) are given desmopressin (DDAVP), a set of larger-than-normal (supranormal) von Willebrand factor (VWF) multimers, similar to those present in VWF-containing cells such as platelets megakaryocytes and endothelial cells, appear transiently in postinfusion plasma. In two kindreds with mild lifelong bleeding symptoms transmi...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Reduced von Willebrand factor survival in type Vicenza von Willebrand disease
Type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. Two candidate mutations, G2470A and G3864A at exons 17 and 27, respectively, of the VWF gene were recently reported to be present in this disorder. Four additional families, originating from northeast Italy, with both mutations of type Vicenza VW...
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