Kanae Sakakibara    Department   Kawasaki University of Medical Welfare  ,    Position   Assistant Professor
Article types	原著
Language	English
Peer review	Peer reviewed
Title	Japanese family with congenital factor VII deficiency
Journal	Formal name：Pediatrics International ISSN code：13288067
Domestic / Foregin	Foregin
Volume, Issue, Page	57(5),pp.1023-1024
Author and coauthor	Sakakibara K, Okayama Y, Fukushima K, Kaji S, Muraoka M, Arao Y, Shimada A
Authorship	Lead author
Publication date	2015/10
Summary	Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered.