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[1例儿童获得性甲型血友病:活化部分凝血活酶时间(APTT)交叉配血试验在早期诊断中的应用]

[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis].

作者信息

Asai Hiroshi, Shirayama Rie, Oshida Koichi, Honda Yuko, Sato Tetsuji, Sakai Michio, Kusuhara Koichi

机构信息

Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan.

Department of Pediatrics, Saiseikai Yahata General Hospital.

出版信息

J UOEH. 2018;40(4):331-337. doi: 10.7888/juoeh.40.331.

Abstract

Acquired hemophilia A (AHA), a bleeding disorder caused by autoantibodies against FVIII, has the potential for life-threatening bleeding. The annual onset rate is said to be one in 4 million people, but diagnosis examples increase in adults because a disorder concept penetrated. AHA is quite rare in children, with an incidence rate of 0.045 per 1 million, but early detection is crucial because serious bleeding can happen, as in adults. We report a pediatric case who received an early diagnosis of AHA by an activated partial thromboplastin time (APTT) cross-mixing test. The 12-year-old girl had neither a past history nor a family history of bleeding episodes. She presented with intramuscular bleeding and epistaxis without trauma or medication. At diagnosis, her blood test showed prolonged APTT. Other hemostatic tests, such as the platelet count, prothrombin time and fibrinogen concentration, were within the normal range. We administered an APTT cross-mixing test that detected an inhibitor pattern and inhibitory antibodies against factors VIII. As a result, we administered prednisolone and the inhibitor disappeared after 1.5 months. In conclusion, AHA is a bleeding disorder which should be considered even in children due to the potential for life-threatening bleeding. Furthermore, the APTT cross-mixing test is useful for screening coagulation factor deficiencies and inhibitors.

摘要

获得性血友病A(AHA)是一种由针对FVIII的自身抗体引起的出血性疾病,有发生危及生命出血的风险。据说年发病率为400万人中有1例,但由于疾病概念的普及,成人中的诊断病例有所增加。AHA在儿童中非常罕见,发病率为每100万人中0.045例,但早期检测至关重要,因为与成人一样,严重出血可能发生。我们报告了一例通过活化部分凝血活酶时间(APTT)交叉混合试验早期诊断为AHA的儿科病例。这名12岁女孩既无出血发作的既往史也无家族史。她出现肌肉内出血和鼻出血,无外伤或用药史。诊断时,她的血液检查显示APTT延长。其他止血检查,如血小板计数、凝血酶原时间和纤维蛋白原浓度,均在正常范围内。我们进行了APTT交叉混合试验,检测到抑制模式和针对因子VIII的抑制性抗体。结果,我们给予了泼尼松龙,1.5个月后抑制剂消失。总之,AHA是一种出血性疾病,由于有发生危及生命出血的风险,即使在儿童中也应予以考虑。此外,APTT交叉混合试验对于筛查凝血因子缺乏和抑制剂很有用。

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