Abstract：
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.
摘要：
遗传性胆汁淤积性肝病是由许多不同基因的突变（通常是罕见的）引起的。虽然这些疾病在病理生物学上有所不同，临床表现和预后，由于胆汁淤积性，它们确实有几个共同点。这些临床实践指南（CPG）提供了胆汁淤积性瘙痒的基因检测和管理的一般方法，同时深入探索遗传性胆汁淤积性肝病的诊断和治疗方法。由欧洲肝脏研究协会任命的专家小组提出了有关诊断和治疗的建议，根据目前在儿科和成人肝病学领域可用的最佳证据，以及遗传学。这些疾病的管理一般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旨在支持肝病学家（适用于儿科和成年患者），住院医师和其他医疗保健专业人员参与这些患者的管理，并根据现有证据提出具体建议，如果不可用，专家意见。
