Summary
A new patient with abnormal factor X (factor X Friuli) coagulation disorder is presented. The propositus is a 18 month old infant who presented a hematoma after birth and subsequently easy bruising.
The main laboratory features were: prolonged prothrombin time, prolonged partial thromboplastin time, abnormal thromboplastin generation and normal RVV-cephalin clotting time. The prothrombin time and the thromboplastin generation test were corrected by the addition of normal serum.
Factor X resulted to be low only when assayed using whole or partial tissue thromboplastin. It resulted to be normal using the RVV-cephalin mixture.
The cross-over electrophoresis showed a normal factor X band in the patient's plasma whereas no band was present in factor X deficient plasma.
Father and mother of our propositus and several other family members were found to be heterozygotes for the abnormality. The propositus is the first patient with this disorder born in Friuli after the description of the condition.
Zusammenfassung
Die Verfasser beschreiben einen neuen Fall mit dem von dem abnormalen Faktor X (Faktor-X-Friuli) verursachten Gerinnungsdefekt. Es handelt sich um ein 18 Monate altes Kind, welches ein Geburtshämatom und später eine Blutungsbereitschaft aufwies.
Die hauptsächlichen Laboratoriumsbefunde bestanden in verlängerter Prothrombinzeit, verlängerter Partialthromboplastinzeit, abnormalem Thrombokinase-Bildungstest und normaler Stypven-Cephalin-Gerinnungszeit. Die Prothrombinzeit und der Thrombokinase-Bildungstest wurden durch Zusatz von Normalserum wieder normalisiert. Eine geringe Faktor-X-Aktivität war bei der Reaktion gegen totale oder partiale Gewebsthromboplastin-Bestimmung nachweisbar; dagegen war die Faktor-X-Aktivität in der Reaktion gegen Stypven-Cephalin-Mischung normal.
Die “Cross-over”-Elektrophorese c'es Plasmas zeigte ein normales Faktor-X-Band, während kein Band im Faktor-X-Mangel-Plasma nachweisbar war.
Die Eltern und mehrere Verwandte des Patienten zeigten eine Heterozygotie dieser Anomalie. Der Patient ist der erste Kranke, der nach der Beschreibung dieser Krankheit in Friuli geboren wurde.
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Girolami, A., Carli, A., Falomo, R. et al. Factor X Friuli coagulation disorder. Blut 27, 151–158 (1973). https://doi.org/10.1007/BF01634029
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DOI: https://doi.org/10.1007/BF01634029