Abstract：
Factor XIII deficiency is an extremely rare autosomal recessive genetic disorder, occurring in 1 of 3-5 million people, and is associated with perinatal complications, such as habitual abortion and prolonged bleeding. Although plasma-derived factor XIII (Fibrogamin®) carries a risk of infection and contains very low concentrated forms of factor XIII (FXIII) used for a pregnant woman with congenital coagulation factor XIII deficiency, recombinant factor XIII (rFXIII, Novo Thirteen®; Tretten®, Novo Nordisk, Bagsvaerd, Denmark), which has no risk of infection and is highly concentrated, has emerged as a novel formulation. Herein, we report the first case of a Japanese pregnant woman with congenital coagulation factor XIII deficiency successfully managed by rFXIII. She had a good perinatal course without pregnancy-related complications and transfusion through the perinatal period.
摘要：
因子XIII缺乏症是一种极其罕见的常染色体隐性遗传病，发生在3-5百万人中的1人，并与围产期并发症有关，如习惯性流产和长期出血。尽管血浆衍生因子XIII（Fibrogamin®）具有感染风险，并且含有非常低的浓度形式的因子XIII（FXIII），用于患有先天性凝血因子XIII缺乏症的孕妇，重组因子XIII(rFXIII，Novo13®;Tretten®,诺和诺德,Bagsvaerd,Denmark),没有感染的风险并且高度集中，已经成为一种新颖的表述。在这里，我们报告了1例日本孕妇先天性凝血因子XIII缺乏症,rFXIII治疗成功.她的围产期良好，在围产期没有与妊娠相关的并发症和输血。
