新生儿先天性凝血因子VII缺乏一例报道

Neonatal Congenital Absence of Clotting Factor VII: A Case Report

目的:探讨新生儿先天性凝血因子VII缺乏的原因和治疗方法。方法:对我科发现的1例新生儿先天性凝血因子VII缺乏病例进行临床资料的回顾性分析。结果:患儿因无明显原因及诱因发现皮肤出血点,转入新生儿重症监护室,经送检凝血因子VII:C 0.5%,提示凝血因子VII缺乏症,送检其父母、姐姐的凝血因子VII C分别为:28.5%、31.0%、和25.2%,提示与遗传因素有关。经反复输注凝血酶原复合物、新鲜冰冻血浆等治疗后,康复出院。结论:在临床工作中,新生儿存在凝血功能异常,治疗效果不满意,应及时完善凝血因子检查,以避免漏诊、误诊,延误病情。

Objective: To investigate the causes and treatment of congenital absence of clotting factor VII. Me-thod: The clinical data of one infant with the disease of congenital absence of clotting factor VII in our department were retrospectively analyzed. Result: The infant was transferred to neonatal ICU because of the skin bleeding for no apparent reason. The determination of coagulation factor VII was C 0.5%, revealing the coagulation factor VII deficiency. The coagulation factor VII C of the in-fant’s parents and sister was respectively 28.5%, 31.0% and 25.2%, indicating the relationship with genetic factors. After repeated infusion of fresh frozen plasma and prothrombin complex, the infant recovered and was discharged from hospital. Conclusion: In clinical work, coagulant function abnormality of neonatal repeatedly, we should check the clotting factor as soon as possible in order to avoid missed diagnosis, misdiagnosis and delay treatment.