晚期囊性纤维化肝病遗传研究进展

肝脏 ›› 2025, Vol. 30 ›› Issue (3): 299-300.

晚期囊性纤维化肝病遗传研究进展

成业, 李忠蝶, 王建设

201102 上海国家儿童医学中心复旦大学附属儿科医院感染传染肝病科

收稿日期:2025-02-18 出版日期:2025-03-31 发布日期:2025-06-16
通讯作者: 王建设,Email: jshwang@shmu.edu.cn

Received:2025-02-18 Online:2025-03-31 Published:2025-06-16

摘要/Abstract

摘要： 囊性纤维化(CF)是一种由CFTR基因突变引起的常见遗传性疾病,肝脏损伤是其重要的并发症,晚期囊性纤维化肝病(aCFLD)严重影响患者生活质量,是导致CF患者死亡的主要因素之一。虽然CFTR基因的突变与CFLD的发生相关,但遗传学研究表明其他基因的变异也可能影响aCFLD的进展。SERPINA1、TGFβ1、CXCR1、AAMP等基因的多态性与aCFLD的风险相关,尤其是SERPINA1的Z等位基因。此外,血管病变,特别是肝脏微血管和血流动力学的改变,也可能在aCFLD的进展中起关键作用,本文就此做简要介绍。

关键词: 囊性纤维化肝病, 修饰基因, 遗传易感性, 血管病变

成业, 李忠蝶, 王建设. 晚期囊性纤维化肝病遗传研究进展[J]. 肝脏, 2025, 30(3): 299-300.

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