婴幼儿胆汁淤积：基于病理机制的治疗进展
Journal: Basic Medical Theory Research DOI: 10.32629/bmtr.v8i2.18892
Abstract
婴幼儿胆汁淤积是由胆汁酸代谢紊乱、胆管发育异常或肝细胞转运缺陷引起的临床综合征，其病因复杂且高度异质性。近年来，随着分子机制研究的深入，靶向治疗取得显著进展：回肠胆汁酸转运蛋白（IBAT）抑制剂（如奥德昔巴特）通过阻断胆汁酸肠肝循环改善进行性家族性肝内胆汁淤积症2型（PFIC2）患者症状；法尼醇X受体（FXR）激动剂和mRNA疗法（如ABCB4-LNP）在动物模型中展现出病因治愈潜力；中药活性成分（如芍药苷）通过调控FXR/胆汁盐输出泵（BSEP）通路减轻肝损伤。本文系统综述了婴幼儿胆汁淤积的病理机制分类及对应治疗策略，提出“精准诊断-靶向干预-微生物组调节”的多维治疗框架，为临床实践及新药研发提供新思路。
Keywords
胆汁淤积；病理机制；靶向治疗；基因编辑；中西医结合
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[11] Heubi J E, Setchell K D R, Bove K E. Inborn Errors of Bile Acid Metabolism [J]. Clinics in liver disease, 2018, 22(4): 671-87.
[12] Lomas D A, Hurst J R, Gooptu B. Update on alpha-1 antitrypsin deficiency: New therapies [J]. Journal of hepatology, 2016, 65(2): 413-24.
[13] Kamal N, Surana P, Koh C. Liver disease in patients with cystic fibrosis [J]. Current opinion in gastroenterology, 2018, 34(3): 146-51.
[14] Tam P K H, Wells R G, Tang C S M, et al. Biliary atresia [J]. Nature reviews Disease primers, 2024, 10(1): 47.
[15] Lee H S, Lee J I, Jeon J. Congenital syphilis unusually presenting with prematurity-related severe neonatal morbidities including meconium obstruction: A case report and review of the literature [J]. Medicine, 2020, 99(40): e22321.
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[17] Loomes K M, Squires R H, Kelly D, et al. Maralixibat for the treatment of PFIC: Long-term, IBAT inhibition in an open-label, Phase 2 study [J]. Hepatology communications, 2022, 6(9): 2379-90.
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