Rodeghiero F, Castaman G C, Dal Belin Peruffo A, Dini E, Galletti A, Barone E, Gastaldi G
Department of Hematology, San Bortolo Hospital, Vicenza, Italy.
Thromb Haemost. 1987 Jun 3;57(3):252-8.
Two new cases of congenital dysfibrinogenemia are presented in which defective fibrin monomer polymerization and inhibitory activity on normal coagulation were observed. They have been tentatively called fibrinogen Vicenza and Genova II. The first was discovered in a family with mild bleeding diathesis, the second in an asymptomatic family. In almost all reported cases of fibrinogens with defective fibrin monomer polymerization, additional functional or structural defects have been detected. In our cases, on the contrary, detailed investigations failed to show any other abnormality. Fibrinogen Genova II is apparently identical to fibrinogen Baltimore IV, whereas fibrinogen Vicenza is similar to fibrinogen Troyes and Genova I, but also exerts an evident inhibitory activity on normal coagulation and differs from fibrinogen Genova II and Baltimore IV showing a different kinetic pattern of fibrin monomer polymerization.
本文报告了两例先天性异常纤维蛋白原血症的新病例，观察到纤维蛋白单体聚合缺陷及对正常凝血的抑制活性。它们被暂定为维琴察纤维蛋白原和热那亚II型纤维蛋白原。第一例在一个有轻度出血倾向的家族中发现，第二例在一个无症状家族中发现。在几乎所有报道的纤维蛋白单体聚合缺陷的纤维蛋白原病例中，还检测到了其他功能或结构缺陷。相反，在我们的病例中，详细检查未发现任何其他异常。热那亚II型纤维蛋白原显然与巴尔的摩IV型纤维蛋白原相同，而维琴察纤维蛋白原与特鲁瓦纤维蛋白原和热那亚I型纤维蛋白原相似，但对正常凝血也有明显的抑制活性，且与热那亚II型纤维蛋白原和巴尔的摩IV型纤维蛋白原不同，表现出不同的纤维蛋白单体聚合动力学模式。
