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Hamostaseologie 1994; 14(04): 159-168
DOI: 10.1055/s-0038-1660359
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Schattauer GmbH

Hämostaseologische und molekulare Diagnostik des Von-Willebrand-Syndroms

R. Schneppenheim
1   Klinik für Allgemeine Pädiatrie im Klinikum der Christian-Albrechts-Universität Kiel (Direktor: Prof. Dr. med. J. Schaub)
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Publication History

Publication Date:
26 June 2018 (online)

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Zusammenfassung

Seit der Erstbeschreibung des Von-Willebrand-Syndroms (vWS) als »Hereditär Pseudohemofili« durch Erik Adolf von Willebrand 1926 schaffte erst die Verfügbarkeit moderner hämostaseologischer und in letzter Zeit auch molekularer Methoden die Voraussetzung für die heutigen Kenntnisse über die Genetik und die Natur der zugrundeliegenden quantitativen, funktionellen und molekularen Defekte. Die bekannte ausgeprägte Heterogenität der klinischen Symptome und der Laborparameter korrespondiert mit der Natur und der Lokalisation der molekularen Defekte in definierten Regionen des multifunktionellen Von-Willebrand-Faktors. Das diagnostische Vorgehen und die Indikationen für zusätzliche molekulargenetische Untersuchungen zur Charakterisierung der verschiedenen heute bekannten Typen und Subtypen des vWS werden dargestellt.

Schlüsselwörter

Von-Willebrand-Syndrom - Von-Willebrand-Faktor - Diagnose - Genetik - molekulare Defekte
 

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