Congenital factorⅦdeficiency:a report of two cases and literature review
10.3969/j.issn.1000-3606.2014.05.008
- VernacularTitle:遗传性凝血因子Ⅶ缺乏症2例报告并文献复习
- Author:
Qian ZHAI
;
Yun CAO
;
Xiaowen ZHAI
;
Rong ZHANG
- Publication Type:Journal Article
- Keywords:
factor Ⅶ deficiency;
congenital;
neonate
- From:
Journal of Clinical Pediatrics
2014;(5):430-433
- CountryChina
- Language:Chinese
-
Abstract:
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.
