儿童遗传性胆汁淤积性肝病的机制研究及治疗进展
Advances in Mechanism Research and Treatment of Congenital Cholestatic Liver Disease
DOI: 10.12677/acm.2026.1641430, PDF,   
作者: 陈 祎, 周玉娇, 张祯祯*：重庆医科大学附属儿童医院感染科，重庆；儿童少年健康与疾病国家临床研究中心，重庆；儿童发育疾病研究教育部重点实验室，重庆；儿童感染与免疫罕见病重庆市重点实验室，重庆
关键词: 遗传性胆汁淤积性肝病；儿童；分子机制；靶向治疗；基因治疗；Congenital Cholestatic Liver Disease； Children； Molecular Mechanism； Targeted Therapy； Gene Therapy
摘要: 遗传性胆汁淤积性肝病是儿童肝病的重要致病因素之一。伴随基因检测技术的迅猛发展，大量致病基因被陆续鉴定，该疾病的基因谱系与临床表型谱均得到显著扩展。研究表明，除了胆汁酸合成代谢通路与胆管发育相关基因突变外，细胞紧密连接、纤毛相关基因的突变也被证实参与遗传性胆汁淤积性肝病发生。随着分子医学领域的进展，包括靶向治疗、基因干预等新型治疗策略为该病的临床管理提供了新的方向。本文系统综述了儿童遗传性胆汁淤积性肝病分子机制与治疗策略的最新研究进展。
Abstract: Congenital cholestatic liver disease is a significant etiological factor in pediatric liver diseases. With the rapid advancement of gene detection technologies, a multitude of pathogenic genes have been identified, leading to a substantial expansion in both genetic spectrum and clinical phenotypic spectrum. Studies have shown that, in addition to mutations in genes associated with bile acid synthesis and metabolism pathways and biliary tract development, mutations in genes related to cellular tight junctions and cilia also lead to congenital cholestatic liver diseases. And with the development of molecular medicine, novel treatments such as targeted therapy and genetic intervention have provided new directions for clinical management. This article systematically reviews the latest research advances in the molecular mechanisms and treatment strategies of genetic cholestatic liver diseases in children.
文章引用：陈祎, 周玉娇, 张祯祯. 儿童遗传性胆汁淤积性肝病的机制研究及治疗进展[J]. 临床医学进展, 2026, 16(4): 1891-1897. https://doi.org/10.12677/acm.2026.1641430

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