遗传性胆汁淤积症诊疗

Diagnosis and treatment of hereditary cholestasis

随着我国在病毒性肝炎防治方面取得巨大成就,由基因缺陷引起的遗传性胆汁淤积症已逐渐成为儿童期肝病死亡或移植的重要原因。不断发现新的致病基因拓展了疾病谱和人们对疾病的认知。不同基因缺陷引起的遗传性胆汁淤积症的疾病特点和临床表现各异,同一基因缺陷引起疾病的严重程度和对治疗的反应也差异显著,早期基因诊断对改善患者的临床管理具有重要价值。治疗方面,除了传统药物和手术外,靶向治疗和基因治疗等也逐步走向临床应用。代谢组学、基因编辑技术和结构生物学的发展使得未来对遗传性胆汁淤积病患儿的个体化精准治疗成为可能,这也给相关从业人员提出了更高要求。

With China's outstanding achievements in the prevention and treatment of hepatitis,hereditary cholestasis caused by genetic variants has gradually become an important cause of death or transplantation in children with liver disease.The continuous identification of new pathogenic genes expands the disease spectrum and clinician's understanding of disease.The disease characteristics and clinical manifestations of hereditary cholestasis caused by different gene variants vary,and the severity of diseases caused by the same gene variants and the response to treatment are also significantly different.Therefore,early genetic diagnosis is of great value for improving the clinical management of patients.In terms of treatment,in addition to traditional drugs and surgery,targeted therapy and gene therapy are also gradually moving towards clinical application.Advances in metabolomics,gene editing technology,and structural biology have made it possible to provide personalized and precise treatment of children with hereditary cholestasis in the future;however,this which will put forward higher requirements for on relevant practitioners.