Inomoto T, Takamoto M, Horiuchi N, Sato K, Fujino O, Oka K, Tomonari A, Uno Y, Sigekiyo T
Department of Internal Medicine, Japanese Red Cross Komatushima Hospital.
Rinsho Ketsueki. 1992 Sep;33(9):1166-71.
A pregnant woman with congenital antithrombin III (AT III) deficiency was given AT III concentrate and warfarin at the first and after 36th week of gestation periods and at the other gestation period, respectively. The patient developed thrombosis in the left leg, but fibrinopeptide A (FPA) and thrombin-AT III complex (TAT) had already shown high values one week before, suggesting the possibility of their being forecast markers of thrombosis. The administration of AT III concentrate caused an improvement in thrombosis. Therefore, in case of high FPA and TAT values as determined one or two times a week, the administration of AT III concentrate was thought necessary. In case of warfarin, however, non-administration during the 6th-9th weeks of gestation for the purpose of avoiding teratogenicity and frequent blood coagulation tests taking heed of overdosage for the purpose of avoiding fetal central nervous system abnormalities were suggested necessary. Delivery was uneventful, both mother and child being doing very well; umbilical blood AT III activity was 18%. It is generally difficult for us to form the diagnosis as AT III deficiency only from AT III activity at neonatal stage, but in the present study, we analyzed the restriction fragment length polymorphism of the AT III gene using umbilical blood, and succeeded in diagnosing the neonatal child as AT III deficiency.
一名患有先天性抗凝血酶III(AT III)缺乏症的孕妇,在妊娠第1周和第36周时分别接受了AT III浓缩物和华法林治疗,在其他妊娠期也分别接受了相应治疗。该患者左腿出现血栓形成,但在血栓形成前一周纤维蛋白肽A(FPA)和凝血酶-AT III复合物(TAT)就已显示出高值,提示它们有可能作为血栓形成的预测指标。给予AT III浓缩物后血栓形成情况有所改善。因此,若每周测定一两次FPA和TAT值较高,认为有必要给予AT III浓缩物。然而,对于华法林,建议在妊娠第6至9周期间不使用以避免致畸性,并密切注意避免胎儿中枢神经系统异常的过量用药情况,需频繁进行凝血检查。分娩过程顺利,母婴情况良好;脐血AT III活性为18%。仅根据新生儿期的AT III活性,我们通常很难诊断为AT III缺乏症,但在本研究中,我们使用脐血分析了AT III基因的限制性片段长度多态性,并成功诊断该新生儿患有AT III缺乏症。