罕见的肝病 - 病因学,诊断和管理:一篇综述
Qi Long1, Rawaz D Tawfeeq2, Yu Jiang3
1Department of Respiratory and Critical Care Medicine, Chongqing Traditional Chinese Medicine Hospital, Chongqing, China.
Biomolecules & biomedicine
|November 12, 2025
概括
本综述综合了关于罕见肝病 (RLDs) 的证据,强调了遗传,自身免疫和代谢原因. 精准医学,整合先进的诊断和向治疗,是早期检测和改善患者结果的关键.
科学领域:
- 肝病学和胃肠道学
- 遗传学和分子生物学
- 公共卫生 公共卫生
背景情况:
- 由于它们的异质性,罕见肝病 (RLDs) 存在诊断和治疗方面的挑战.
- 有限的治疗选择和可变的临床表现使患者管理复杂化.
- 了解RLD病因和分类对于推进护理至关重要.
研究的目的:
- 系统地审查有关RLD病因,分类,诊断和管理的当代证据.
- 确定RLD的研究和实施优先事项.
- 综合发现,以改善临床实践和患者的治疗结果.
主要方法:
- 在PubMed和Scopus (2015-2025) 的系统文献搜索.
- 包括同行评审的人类研究:指导方针,RCT,大型注册表.
- 提取有关疾病生物学,诊断,结果和治疗的数据.
主要成果:
- RLD被分类为遗传性/遗传性,自身免疫性胆固醇性或血管性/代谢性.
- 先进的诊断包括MRCP,NGS和弹性学;生物标志物和AI增强了分期.
- 管理策略包括胆酸调节剂,手术,IBAT抑制剂和基因导向疗法.
结论:
- 精准医学框架对于RLDs至关重要,需要标准化诊断和多中心注册.
- 公平获得早期检测和机制向疗法至关重要.
- 未来的研究应该解决新型RLD治疗的耐用性,安全性和伦理问题.
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