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Hamostaseologie 1998; 18(03): 140-149
DOI: 10.1055/s-0038-1655344
DOI: 10.1055/s-0038-1655344
Übersichtsarbeiten/Review Articles
Molekulare Diagnostik des von-Willebrand-Syndroms
Further Information
Publication History
Publication Date:
27 June 2018 (online)
Zusammenfassung
Seit der Erstbeschreibung des von-Willebrand-Syndroms (vWS) im Jahre 1926 durch Erik Adolf von Willebrand als »Hereditär Pseudohemofili« schaffte erst die Verfügbarkeit moderner hämostaseologischer und molekularer Methoden die Voraussetzung für die heutigen Kenntisse über Pathophysiologie und Genetik der zugrundeliegenden quantitativen, qualitativen und molekularen Defekte. Die ausgeprägte Heterogenität der klinischen Symptome und Laborparameter korrespondiert mit der Natur und der Lokalisation molekularer Defekte in definierten Regionen des multifunktionellen von-Willebrand-Faktors (vWF). Die exakte Charakterisierung der betroffenen Patienten mittels konventioneller und spezieller hämostaseologischer Methoden ist die essentielle Voraussetzung für die Auswahl der adäquaten Strategie zur weiteren molekularen Analyse. Das diagnostische Procedere zur Klassifikation und die insbesondere in Deutschland häufigsten Mutationen des von-Willebrand-Faktors werden dargestellt.
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