Heidegger H, Spannagel M, Schramm W
Frauenklinik im Klinikum Bamberg.
Geburtshilfe Frauenheilkd. 1990 May;50(5):365-7. doi: 10.1055/s-2008-1026262.
Dysfibrinogenaemia is an inherited disorder, characterised by a plasmafibrinogen in normal concentration, but of abnormal quality due to impaired release of fibrinopeptides and/or impaired aggregation of fibrinomonomers. The typical abnormalities of the laboratory findings will be demonstrated by presenting the case reports of 4 patients with 5 pregnancies (1 ectopic pregnancy); the importance of clinical exploration is emphasized. Newborn infants must be subjected to careful clinical and biochemical examination, because of factors of Mendelian dominant inheritance.
异常纤维蛋白原血症是一种遗传性疾病,其特征是血浆纤维蛋白原浓度正常,但由于纤维蛋白肽释放受损和/或纤维蛋白单体聚集受损,导致质量异常。通过介绍4例患者5次妊娠(1例异位妊娠)的病例报告,将展示实验室检查结果的典型异常;强调了临床检查的重要性。由于孟德尔显性遗传因素,新生儿必须接受仔细的临床和生化检查。