遗传性凝血因子Ⅶ缺乏症2例报告并文献复习

Congenital factor Ⅶ deficiency: a report of two cases and literature review

目的探讨遗传性凝血因子Ⅶ缺乏症的发病机制、临床表现、实验室检查、治疗及预后。方法回顾性分析2例遗传性凝血因子Ⅶ缺乏症患儿的临床资料,并检索和复习近十年8篇文献报道的9例同样病例的资料。结果 11例新生儿期起病的遗传性凝血因子Ⅶ缺乏症患儿均为正常出生体质量的足月儿,男7例、女4例,父母近亲结婚3例,有家族史3例。生后即发生出血3例,生后1周内发病8例;10例(90.9%)伴颅内出血,6例(54.5%)伴呕血或便血,2例(18.2%)伴脐带出血,1例(9.1%)伴鼻衄。实验室检查均见凝血酶原时间明显延长、部分凝血活酶时间正常以及凝血因子Ⅶ活性降低,其中10例(90.9%)患儿因子Ⅶ活性<5%。输注血浆治疗者7例(63.6%),输注凝血酶原复合物2例(18.2%),应用人重组活化因子Ⅶ制剂5例(45.5%)。4例(36.4%)患儿出院后定期输注血浆或人重组活化因子Ⅶ制剂,目前生长发育正常;4例(36.4%)死亡,3例放弃治疗。结论对于出血较严重,凝血酶原时间延长、部分凝血活酶时间正常,维生素K治疗不能纠正的患儿,应考虑到遗传性凝血因子Ⅶ缺乏症的可能。人重组活化因子Ⅶ制剂为该病治疗的最佳选择。基因突变类型的研究对该病的筛查、诊断、治疗及判断预后具有重要意义。

Objective To study the pathogenesis, clinical characteristics, laboratory tests, treatments and prognosis of con-genital factorⅦdeficiency. Methods The clinical data of two cases of congenital factorⅦdeficiency diagnosed at the Chil-dren’s Hospital of Fudan University and 9 cases reported in the past 10 years retrieved from Pubmed, Web of Knowledge and CNKI, Wangfang database by using the factorⅦdeficiency , congenital, newborn and case report as keyword were reviewed and analyzed. Results All cases were full term birth with normal birth weight （〉2 500 g）, including 4 females and 7 males. Pa-rental consanguinity was found in 3 cases, and a family history was found in 3 cases. The laboratory tests were characterized by significantly prolonged prothrombin time, normal partial thromboplastin time, and decreased coagulation factorⅦactivity. The coagulation factorⅦactivity of 10 cases were less than 5%. Five cases （45.5%） were treated with human recombinant activated factorⅦ. Four cases （36.4%） treated with plasma or human recombinant activated factorⅦare currently in normal growth and development. Four cases （36.4%） died during the hospitalization. Conclusions A diagnosis of congenital factorⅦdeficiency should be considered in the neonates with severe bleeding, prolonged prothrombin time, normal partial thromboplastin time, and being intractable to vitamin K treatment. Human recombinant activated factorⅦis the first choice of the treatment of congenital factorⅦdeficiency. The further study of gene mutation type will be of great significance for disease screening, diagnosis, treat-ment and prognosis prediction.