Lee Won Seok, Park Young Sil
Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
Korean J Pediatr. 2010 Oct;53(10):913-6. doi: 10.3345/kjp.2010.53.10.913. Epub 2010 Oct 31.
Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder. Bleeding manifestations and clinical findings vary widely, ranging from asymptomatic subjects to patients with hemorrhages that may cause significant handicaps. Treatment has traditionally involved factor VII(FVII) replacement therapy using fresh frozen plasma, prothrombin complex concentrates or plasma-derived FVII concentrates. Recombinant activated FVII (NovoSeven®) is currently considered the first-line treatment for replacement therapy of FVII deficiency. Here we present a case of severe intracerebral and intraventricular hemorrhage in a neonate with congenital FVII deficiency.
先天性因子VII缺乏症是一种罕见的常染色体隐性出血性疾病。出血表现和临床发现差异很大，从无症状个体到可能导致严重残疾的出血患者都有。传统的治疗方法包括使用新鲜冷冻血浆、凝血酶原复合物浓缩物或血浆源性因子VII浓缩物进行因子VII（FVII）替代治疗。重组活化FVII（诺其®）目前被认为是FVII缺乏症替代治疗的一线疗法。在此，我们报告一例患有先天性FVII缺乏症的新生儿发生严重脑内和脑室内出血的病例。
