Über einen neuartigen kongenitalen Gerinnungsdefekt (Mangel an Stuart-Faktor)

Abstract

ZusammenfassungBei einem Säugling mit ungewöhnlich schwerer hämorrhagischer Diathese wurde ein Gerinnungsdefekt festgestellt, der folgende Charakteristika aufweist: Quicksche Prothrombinzeit stark verlängert, Gerinnungszeit mit Russel Vipers Venom stark verlängert, Prothrombin-Verbrauchstest pathologisch, Faktor-VII-Bestimmung mit bovinem Seitzplasma (einstufig) 1 bis 3%. Faktor IX (einstufig) 30%, Thromboplastingeneration mit Patientenserum stark pathologisch, wird durch Mischung mit Hämophilie-B-Serum völlig, mit Marcoumarserum (Beginn der Marcoumartherapie) ebenfalls normalisiert. Plasma und Serum des Patienten „Stuart” (Graham) und unseres Patienten zeigten in allen Tests dasselbe Verhalten.

Factor X Survival and Therapeutic Factor X Levels in the Abnormal Factor X (Factor X Friuli) Coagulation Disorder

“…Typical of this statement is the fact that no cerebral hemorrhage has ever been described in Friuli patients and no sponta neous hemarthrosis. Brain hemorrhage complications have been de scribed in classical factor X deficiency [1,8], Mr. Stuart himself has had repeated hemarthrosis of the right elbow which resulted in ankylosis [18,19,21],…”

Factor X Friuli Coagulation Disorder

“…Cross-over electrophoresis of (1) propositus plasma; (2) pooled normal plasma; (3) Dade normal plasma, and (4) classical factor X deficiency. A normal major or factor X precipitate is seen in the propositus (1). No major or factor X precipitate is visible in classical factor X deficiency (4).…”

“…For example, no spontaneous hemarthrosis and no cerebral hemorrhage have ever been observed (table VI). Both these bleeding manifestations have been observed on the contrary in classical factor X deficiency [1,6,17]. Even the only patient, so far described outside Friuli, meets these criteria [10].…”

“…The 12 homozygote cases represent already a number of patients equal to about half the cases with classical factor X deficiency. Since the description of the first three cases of classical factor X deficiency in 1956-57 [1,[16][17][18], only 22 surely additional cases have been observed and represent an extremely rare coagulation disorder [14,15]. In 7 years 12 patients with the Friuli abnormality have already been gath ered.…”

The discovery of factor X: A personal reminiscence

“…John Graham sent us lyophilizedplasma of Rufus Stuart thatpermittedustodetermine thatt he Stuarta nd the Delia plasma behavedi denticallyi na ll tests and that no correction of the coagulation defectoccurred in mixing experiment. We therefore publishedo ur first report in spring 1957as"Stuartfactor deficiency" (19). Iwas fortunate to be able to publishour initial studies in the very first issue of the journal ThrombosisetDiathesis Haemorragica,the precursor of the present journal Thrombosis and Haemostasis .F ritz Koller, Erwin Deutsch from Viennaand Rudolf Jürgens from Baselhad just created the journal, and submitted manuscripts were quicklyevaluated.…”