›› 2014, Vol. 32 ›› Issue (5): 430-433.

• Original Article • Previous Articles     Next Articles

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

 ZHAI Qian1, CAO Yun1, ZHAI Xiaowen2, ZHANG Rong1   

  1. (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

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.