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[一例蛋白C缺乏症散发病例]

[A sporadic case of protein C deficiency].

作者信息

Ishimaru F, Hayashi H, Ueki K, Fujita T, Tsurumi N, Tsuda T, Kimura I

机构信息

Department of Blood Transfusion, Okayama University Medical School.

出版信息

Rinsho Ketsueki. 1990 Nov;31(11):1856-61.

PMID:2287072
Abstract

A congenital deficiency of protein C (PC) is reported in a 42-year-old male, suffering from his first spontaneous episode of deep venous thrombosis in the left lower limb. The only defect found in laboratory assays for hemostasis and hepatic function was half normal level of PC, measured by both immunological and functional assays. To confirm congenital PC deficiency, the functional activity levels of PC were compared with those of other vitamin K-dependent factors during stabilized anticoagulant therapy under stable conditions. Although the patient's father had a history of a cerebral vascular accident, his PC level was found to be within normal levels. The patient's mother, free from thromboembolic events, also had a normal PC level. So the patient seemed to be a sporadic case. However, the patient's 14-year-old son, who has been asymptomatic to this time, has the same PC deficiency state.

摘要

据报道,一名42岁男性患有先天性蛋白C(PC)缺乏症,首次出现左下肢自发性深静脉血栓形成。在止血和肝功能实验室检测中发现的唯一缺陷是通过免疫和功能检测测得的PC水平为正常水平的一半。为了确认先天性PC缺乏症,在稳定的抗凝治疗期间,在稳定条件下将PC的功能活性水平与其他维生素K依赖性因子的水平进行了比较。尽管患者的父亲有脑血管意外病史,但其PC水平在正常范围内。患者的母亲没有血栓栓塞事件,其PC水平也正常。因此,该患者似乎是散发病例。然而,患者14岁的儿子目前无症状,却具有相同的PC缺乏状态。

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