Zusammenfassung
Die bei 5 von 8 Kindern einer Familie beobachtete angeborene hämorrhagische Diathese war gerinnungsanalytisch charakterisiert durch verlängerte Blutungszeiten, verminderte Adhäsivitäten und verminderte Aktivität des Ristocetin-von Willebrand-Faktors. Die Faktor VIII-Aktivität und das Faktor VIII-assoziierte Antigen waren dagegen nicht vermindert. Die Befunde, die bei den Eltern und den Kindern in der zweidimensionalen Immunelektrophorese erhoben werden konnten, gaben Hinweis auf das Vorliegen eines qualitativ veränderten Faktor VIII-assoziierten Antigens.
Summary
A family is described in which 5 out of 8 children had a marked bleeding disorder. The children showed prolonged bleeding times, abnormal platelet retention upon passage of blood through a glass bead column, the Willebrand factor activity as measured by ristocetin in a washed platelet system was low. Factor VIII/von Willebrand factor protein levels were normal even so the factor VIII-procoagulant activity. Even the parents and one child without any bleeding tendency and normal bleeding times had a reduced Willebrand factor activity. In all these patients evidence of an abnormal protein was observed on crossed antigen-antibody electrophoresis indicating a qualitative defect of the factor VIII/von Willebrand factor protein.
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Böttcher, D., Hasler, K., Sutor, A.H. et al. Von Willebrand-Jürgens-Syndrom mit einer Variante des Faktor VIII-assoziierten Antigens. Blut 33, 33–40 (1976). https://doi.org/10.1007/BF01005210
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DOI: https://doi.org/10.1007/BF01005210