Further studies on the abnormal factor X (factor X Friuli) coagulation disorder. A report of another family.
Further studies on the abnormal factor X (factor X Friuli) coagulation disorder. A report of another family.
复制标题
异常X因子（Friuli因子X）凝血障碍的进一步研究。
DOI：
10.1182/blood.v37.5.534.534
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发表时间：
1970
期刊：
影响因子：
--
通讯作者：
A. Brunetti
中科院分区：
文献类型：
--
作者：
Antonio Girolami;M. Lazzarin;R. Scarpa;A. Brunetti
另一个病人先天性凝血功能障碍，由于存在异常的X因子（因子X弗留利）。先证者是一名43岁的白色女性，从儿童早期就有出血倾向（鼻出血、单出血、拔牙和其他外科手术后出血、创伤后关节积血、牙龈出血和产后出血）。凝血检查显示凝血酶原时间延长、部分凝血活酶时间延长、凝血酶原消耗异常和正常血清校正的凝血活酶生成异常。因子II、V、VII、IX和XII均在正常范围内。血小板、血管检查和纤溶均正常。斯图尔特先生的血浆未能纠正先证者血浆的缺陷，但一种已知的VII因子缺陷血浆能够纠正异常。仅当使用全部或部分组织促凝血酶原激酶时，因子X测定才较低（6-9%）。当用Stypven-cephalin混合物测定因子X时，观察到正常或接近正常值。同样，使用Stypven-cephalin混合物的Stypven-cephalin凝血时间、Stypven凝血时间和因子II +因子X水平均正常。异常因子X的存在在免疫学上得到证实。这种缺陷，像经典的X因子缺乏症一样，是以常染色体不完全隐性遗传性状传递的。我们的先证者的母亲和两个孩子的X因子水平从正常的38%到56%不等，被认为是杂合子。
Another patient with a congenital coagulation disorder due to the presence of an abnormal factor X (factor X Friuli) is presented. The proposita was a 43-yr-old white female who had a bleeding tendency from early childhood (epistaxes, monorrhagias, bleeding after tooth extractions and other surgical procedures, posttraumatic hemarthroses, bleeding from the gums and postpartum hemorrhages). The coagulation work-up demonstrated a prolonged prothrombin time, prolonged partial thromboplastin time, abnormal prothrombin consumption, and abnormal thromboplastin generation corrected by normal serum. Factors II, V, VII, IX, and XII were within normal limits. Platelets, vascular tests and fibrinolysis were normal. Mr. Stuart’s plasma failed to correct the defect of the proposita’s plasma, but a known factor VII deficient plasma was able to correct the abnormality. The factor X assay was low (6-9%) only when tissue thromboplastin, whole or partial, was used. When Factor X was assayed with a Stypven-cephalin mixture, normal or near normal values were observed. Likewise, the Stypven-cephalin clotting time, the Stypven clotting time and the factor II + factor X level using a Stypven-cephalin mixture were normal. The presence of the abnormal factor X was demonstrated immunologically. The defect, like classical factor X deficiency, is transmitted as an autosomal incompletely recessive trait. The mother and the two children of our proposita had factor X levels varying from 38 to 56% of normal and were considered to be heterozygotes.