病例报告:一种SERPINC1新突变的病例导致了血栓性微血管病变
Bing Li1, Xiaohui Zhang1, Hailin Lv1
1Department of Nephrology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Qingdao, China.
Frontiers in genetics
|October 13, 2023
概括
在患有新型SERPINC1突变的患者中发现了遗传性抗血缺乏症,这是血栓性微血管病变 (TMA) 的罕见原因. 早期基因检测对于诊断这种罕见疾病至关重要.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 遗传性抗血缺乏症使个体易患血栓症.
- 由于抗血缺乏症的继发性血栓性微血管病变 (TMA) 是非常罕见的.
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