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妊娠期肝内胆汁淤积症的遗传问题。

Genetic issues in ICP.

作者信息

Zöllner Julia, Williamson Catherine, Dixon Peter H

机构信息

University College London, London, UK.

Imperial College London, London, UK.

出版信息

Obstet Med. 2024 Sep;17(3):157-161. doi: 10.1177/1753495X241263441. Epub 2024 Jul 26.

Abstract

Intrahepatic cholestasis of pregnancy (ICP) is the commonest gestational liver disorder with variable global incidence. Genetic susceptibility, combined with hormonal and environmental influences, contributes to ICP aetiology. Adverse pregnancy outcomes linked to elevated serum bile acids highlight the importance of comprehensive risk assessment. and gene variants play a significant role in about 20% of severe ICP cases. Several other genes including , , , , , and have also been implicated with ICP. Additionally variants elevate the risk of drug-induced intrahepatic cholestasis, gallstone disease, gallbladder and bile duct carcinoma, liver cirrhosis and abnormal liver function tests. Genetic variations, both rare and common, intricately contribute to ICP susceptibility. Leveraging genetic insights holds promise for personalised management and intervention strategies. Further research is needed to elucidate variant-specific phenotypic expressions and therapeutic implications, advancing precision medicine in ICP management.

摘要

妊娠期肝内胆汁淤积症(ICP)是最常见的妊娠肝脏疾病,全球发病率各不相同。遗传易感性,加上激素和环境影响,共同构成了ICP的病因。与血清胆汁酸升高相关的不良妊娠结局凸显了全面风险评估的重要性。 和 基因变异在约20%的严重ICP病例中起重要作用。其他几个基因,包括 、 、 、 、 和 也与ICP有关。此外,基因变异会增加药物性肝内胆汁淤积症、胆结石病、胆囊和胆管癌、肝硬化以及肝功能检查异常的风险。罕见和常见的基因变异都错综复杂地影响着ICP易感性。利用遗传学见解有望制定个性化管理和干预策略。需要进一步研究以阐明变异特异性表型表达和治疗意义,推动ICP管理中的精准医学发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f97/11384815/3ad2d8391a55/10.1177_1753495X241263441-fig1.jpg

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