J Hepatol. 2024 Aug;81(2):303-325. doi: 10.1016/j.jhep.2024.04.006. Epub 2024 Jun 8.
Genetic cholestatic liver diseases are caused by (often rare) mutations in a multitude of different genes. While these diseases differ in pathobiology, clinical presentation and prognosis, they do have several commonalities due to their cholestatic nature. These Clinical Practice Guidelines (CPGs) offer a general approach to genetic testing and management of cholestatic pruritus, while exploring diagnostic and treatment approaches for a subset of genetic cholestatic liver diseases in depth. An expert panel appointed by the European Association for the Study of the Liver has created recommendations regarding diagnosis and treatment, based on the best evidence currently available in the fields of paediatric and adult hepatology, as well as genetics. The management of these diseases generally takes place in a tertiary referral centre, in order to provide up-to-date approaches and expertise. These CPGs are intended to support hepatologists (for paediatric and adult patients), residents and other healthcare professionals involved in the management of these patients with concrete recommendations based on currently available evidence or, if not available, on expert opinion.
遗传性胆汁淤积性肝病是由多种不同基因的（通常为罕见）突变引起的。尽管这些疾病在病理生物学、临床表现和预后方面存在差异，但由于其胆汁淤积的性质，它们确实有一些共同之处。这些临床实践指南（CPGs）提供了一种针对胆汁淤积性瘙痒的遗传检测和管理的一般方法，同时深入探讨了一组遗传性胆汁淤积性肝病的诊断和治疗方法。欧洲肝脏研究协会任命的一个专家小组根据儿科和成人肝病以及遗传学领域目前可获得的最佳证据，就诊断和治疗提出了建议。这些疾病的管理通常在三级转诊中心进行，以提供最新的方法和专业知识。这些 CPG 旨在为肝病学家（儿科和成人患者）、住院医师和其他参与这些患者管理的医疗保健专业人员提供支持，根据目前可用的证据或在没有证据的情况下，根据专家意见提供具体建议。
