在患有慢性血栓性微血管病症的患者中,同时出现可巴胺C和等离子素缺乏症
Ahmet Burak Dirim1,2, Seda Safak1, Mehmet Cihan Balci3
1Division of Nephrology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
这项研究呈现了第一个非典型的血溶性尿素综合征 (aHUS) 的病例,由同时存在的可巴胺C (Cbl C) 和等离子素 (PLG) 缺乏引起. 这一发现扩大了非补充介导的aHUS.的遗传景观.
科学领域:
- 遗传学 遗传学 是一个
- 腎臟病學 (nephrology) 是一種醫學.
- 血液学 血液学 血液学
背景情况:
- 非典型的血溶性尿性综合征 (aHUS) 通常与补充通路基因变异有关.
- 很少,像MMACHC和PLG这样的非补充通路基因与aHUS有关.
- 非补充介导的aHUS代表了一个特殊的临床实体.
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