サカキバラ　カナエ   Kanae Sakakibara   榊原　佳奈枝    所属   川崎医療福祉大学  医療技術学部 臨床検査学科    職種   講師
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Japanese family with congenital factor VII deficiency
掲載誌名	正式名：Pediatrics International ISSNコード：13288067
掲載区分	国外
巻・号・頁	57(5),pp.1023-1024
著者・共著者	Sakakibara K, Okayama Y, Fukushima K, Kaji S, Muraoka M, Arao Y, Shimada A
担当区分	筆頭著者
発行年月	2015/10
概要	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.