遗传性凝血因子Ⅶ缺乏症2例报告并文献复习

临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (5): 430-433.

遗传性凝血因子Ⅶ缺乏症2例报告并文献复习

翟倩¹, 曹云¹, 翟晓文², 张蓉¹

复旦大学附属儿科医院 1.新生儿科，2.血液科（上海　201102）

收稿日期:2013-11-22 出版日期:2014-05-15 发布日期:2014-05-15

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

ZHAI Qian¹, CAO Yun¹, ZHAI Xiaowen², ZHANG Rong¹

（1.Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102；2. Department of Hematology, Children’s Hospital of Fudan University, Shanghai 201102）

Received:2013-11-22 Online:2014-05-15 Published:2014-05-15

摘要/Abstract

摘要：

　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（90.1%）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%。输注血浆治疗的有7例（63.6%），输注凝血酶原复合物的有2例（18.2%），应用人重组活化因子Ⅶ制剂的有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、治疗及预后判断具有重要意义。

Abstract: 　Objective　To study the pathogenesis, clinical characteristics, laboratory tests, treatments and prognosis of congenital factor Ⅶ deficiency. Methods The clinical data of two cases of congenital factor Ⅶ deficiency diagnosed at the Children’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 factor Ⅶ deficiency , congenital, newborn and case report as keyword were reviewed and analyzed. Results All cases were full term birth with low birth weight (<2 500 g), including 7 females and 7 males. Parental 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 factor Ⅶ activity. The coagulation factor Ⅶ activity of 10 cases were less than 5%. Five cases (45.5%) were treated with human recombinant activated factor Ⅶ. Four cases(36.4%) treated with plasma or human recombinant activated factor Ⅶ are currently in normal growth and development. Four cases (36.4%) died during the hospitalization. Conclusions A diagnosis of congenital factor Ⅶ deficiency 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 factor Ⅶ is the first choice of the treatment of congenital factor Ⅶ deficiency. The further study of gene mutation type will be of great significance for disease screening, diagnosis, treatment and prognosis prediction.

翟倩, 曹云, 翟晓文, 张蓉. 遗传性凝血因子Ⅶ缺乏症2例报告并文献复习[J]. 临床儿科杂志, 2014, 32(5): 430-433.

ZHAI Qian,CAO Yun,ZHAI Xiaowen,ZHANG Rong. Congenital factor Ⅶ deficiency: A report of two cases and literature review[J]. , 2014, 32(5): 430-433.

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