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肝移植治疗肝脏遗传性毛细血管扩张症一例
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Organ Transplantation
- Issue:
- 3
- DOI:
- 10.3760/cma.j.issn.0254-1785.2017.03.012
- Key Word:
- No keyword available
Abstract： 遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HHT)是人类第9对染色体长臂显性遗传性疾病,并以反复鼻出血、皮肤毛细血管扩张和内脏动静脉畸形为特征.该病多发生于皮肤、肺、胃肠道及脑,累及肝脏较少[1].累及肝脏的HHT的经常与2型HHT和活化素受体样激酶(activin receptor-like kinase,ALK1)基因变异相关.高达74％的HHT患者可发生以肝内动静脉血管畸形(AVM)为主要特征的肝脏受累,但仅有不超过8％的患者出现肝脏疾病的症状24.HHT症状多样化,且早期临床症状多不典型.因此,以AVM为主要表现的HHT患者早期临床诊断非常困难,极易误诊.本文分析我院1例肝脏HHT(hepatic HHT,HHHT)患者临床资料,探讨该患者诊治经验和方法.
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