Flaujeac trait. Deficiency of human plasma kininogen.
Flaujeac trait plasma resembled Hageman trait or Fletcher trait, in that the intrinsic coagulation pathway, plasma fibinolytic pathway, kinin-forming system, permeability factor of dilution (PF/dil) phenomenon were abnormal. The defect in each assay was reconstituted by afactor separable from Hageman factor or Fletcher factor. This substance was an alpha-globulin with an approximate mol wt of 170,000. Flaujeac plasma did not release a kinin upon incubation with kallikrein and was deficient in total kininogen antigen. Antiserum to kininogen inhibited the activity of the factor in solution. Flaufeac factor was identified as a kininogen of high molecular weight (HMW-kininogen). The mean total kininogen antigen in four children of the proposita was 51% (range 34-62%) of normal. A functional coagulation assay of HMW-kininogen in the children was 34% (range 23-55%). The results were consistent with autosomal recessive inheritance. The plasma pathways of intrinsic coagulation, fibrinolysis, kinin formation, and PF/dil generation are dependent upon HMW-kininogen. We believe this is the first demonstration of biological function for a kininogen apart from its role as a substrate for kallikreins.
D000937:Antigen-Antibody Reactions; D001778:Blood Coagulation Disorders / Q000097:blood* / Q000235:genetics / Q000628:therapy; D001779:Blood Coagulation Factors / Q000096:biosynthesis / Q000302:isolation & purification; D002850:Chromatography, Gel; D004589:Electrophoresis, Disc; D005260:Female; D005341:Fibrinolysin / Q000096:biosynthesis; D005808:Genes, Recessive; D006801:Humans; D007704:Kininogens / Q000627:therapeutic use; D008297:Male; D013577:Syndrome
D001779:Blood Coagulation Factors; D007704:Kininogens; D005341:Fibrinolysin