Todd T, Perry D J, Hayman E, Lawrence K, Gattens M, Baglin T
Department of Haematology, Addenbrooke's Hospital, Hills Road, Cambridge, UK.
Haemophilia. 2006 Nov;12(6):621-4. doi: 10.1111/j.1365-2516.2006.01315.x.
Severe factor X deficiency (<0.01 IU mL(-1)) is a rare disorder producing a major bleeding tendency including umbilical cord, joint and intracranial haemorrhage. We present the first case of a child homozygous for a g.1177T > C missense alteration, predicted to disrupt the catalytic domain, and resulting in severe FX deficiency. The child suffered intracranial haemorrhage and now receives regular prophylaxis with a prothrombin complex concentrate. Our experience and a review of the literature suggest that optimal frequency of dosing is likely to be two or three times weekly and that the risk of thrombosis is very small.
严重的因子X缺乏症（<0.01 IU mL⁻¹）是一种罕见的疾病，会导致严重的出血倾向，包括脐带出血、关节出血和颅内出血。我们报告了首例因g.1177T > C错义改变而纯合的儿童病例，预计该改变会破坏催化结构域，导致严重的因子X缺乏。该儿童曾发生颅内出血，目前定期接受凝血酶原复合物浓缩物预防治疗。我们的经验及文献综述表明，最佳给药频率可能为每周两到三次，且血栓形成风险非常小。
