Response to DDAVP in children with von Willebrand disease type 2
Budde, U.; Beutel, K.; Hassenpflug, W.-A.; Hauch, H.; Obser, T.; Oyen, F.; Schneppenheim, S.; Schrum, J.; Schneppenheim, R. · Zeitschrift für Orthopädie und Unfallchirurgie · 2009 · Heft 02 · S. 143 bis 148
Bibliografische Angaben
Zusammenfassung
SummaryWe have prospectively evaluated the biologic response to desmopressin (DDAVP) in 28 children with type 2 von Willebrand disease (VWD) in correlation with the phenotype and the molecular defect of VWF. The diagnosis of VWD type 2 was mainly based on VWF functional parameters and/or an aberrant VWF multimer pattern. Seventeen different mutations were identified (6 of them novel). No response with respect to the functional parameters VWF:RCo and/or VWF:CB was seen in patients with severe abnormality of the VWF multimer pattern. One patient with VWD type 2A phenotype IIC Miami did not respond with respect to…
