通过肝移植和eculizumab治疗的Budd-Chiari综合征的CD55缺乏症
Sinja Ohlsson1, Elke Lainka1, Christoph Hünseler2
1Department of Pediatrics II, Pediatric Gastroenterology, Hepatology and Liver Transplantation, University Children's Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Pediatrics
|November 29, 2023
概括
CD55缺乏症是一种罕见的遗传疾病,在一个年轻的患者身上引起了严重的蛋白质损失肠道病变和Budd-Chiari综合征. 治疗eculizumab导致持续的临床缓解,强调了CD55检测的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 胃肠病学 胃肠病学
背景情况:
- 一名患者出现了早期出现的蛋白质丧失肠病,慢性腹和复发性血栓事件.
- 患者患有Budd-Chiari综合征,急性肝衰竭,需要两次肝移植,并发症包括移植拒绝.
- 尽管进行了干预,但持续的腹部症状,蛋白质损失和依赖静脉注射疗法表明存在未解决的潜在疾病.
研究的目的:
- 确定患者复杂的临床表现的遗传原因,包括蛋白质丧失肠病和Budd-Chiari综合征.
- 研究CD55蛋白表达在患者病理生理学中的作用.
- 评估eculizumab在治疗CD55缺乏症中的疗效.
主要方法:
- 流细胞测量用于检测周围血液细胞中的CD55缺乏.
- CD55基因测序发现了一种新型的同卵性拼接位变体 (c.578+5G>A).
- 全外体测序排除了其他罕见疾病,肝脏和结肠活检评估了CD55蛋白表达.
主要成果:
- 在CD55中发现了一种新型,可能是致病性同卵性拼接位变异,导致肝脏和结肠中缺少CD55蛋白质表达.
- 患者在经过56个月的eculizumab治疗后实现了完全的临床缓解,并维持了移植功能和蛋白质损失的解决.
- 最初的血栓友爱症工作并不显著,强调需要更广泛的遗传调查.
结论:
- 在无法解释的蛋白质丧失肠病的差异诊断中,应考虑CD55缺乏症.
- 当病因不确定时,CD55缺乏是Budd-Chiari综合征的潜在潜在原因.
- 针对CD55缺乏症的向基因测试和eculizumab治疗为受影响个体提供了一个有希望的治疗策略.
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