PDF(Pubmed)
Abstract：
UNASSIGNED: Progressive familial intrahepatic cholestasis (PFIC) relates to a group of rare, debilitating, liver disorders which typically present in early childhood, but have also been reported in adults. Without early detection and effective treatment, PFIC can result in end-stage liver disease. The aim of the paper was to put forward recommendations that promote standardisation of the management of PFIC in clinical practice.
UNASSIGNED: A committee of six specialists came together to discuss the challenges faced by physicians in the management of PFIC. The committee agreed on two key areas where expert guidance is required to optimise care: (1) how to diagnose and treat patients with a clinical presentation of PFIC in the absence of clear genetic test results/whilst awaiting results, and (2) how to monitor disease progression and response to treatment. A systematic literature review was undertaken to contextualise and inform the recommendations.
UNASSIGNED: An algorithm was developed for the diagnosis and treatment of children with suspected PFIC. The algorithm recommends the use of licensed inhibitors of ileal bile acid transporters as the first-line treatment for patients with PFIC and suggests that genetic testing be used to confirm genotype whilst treatment is initiated in patients in whom PFIC is suspected. The authors recommend referring patients to an experienced centre, and ensuring that monitoring includes measurements of pruritus, serum bile acid levels, growth, and quality of life following diagnosis and during treatment.
UNASSIGNED: The algorithm presented within this paper offers guidance to optimise the management of paediatric PFIC. The authors hope that these recommendations will help to standardise the management of PFIC in the absence of clear clinical guidelines.
UNASSIGNED: This opinion paper outlines a consistent approach to the contemporaneous diagnosis, monitoring, referral and management of children with progressive familial intrahepatic cholestasis. This should assist physicians given the recent developments in genetic diagnosis and the availability of effective drug therapy. This manuscript will also help to raise awareness of current developments and educate health planners on the place for new drug therapies in progressive familial intrahepatic cholestasis.
UNASSIGNED: A committee of six specialists came together to discuss the challenges faced by physicians in the management of PFIC. The committee agreed on two key areas where expert guidance is required to optimise care: (1) how to diagnose and treat patients with a clinical presentation of PFIC in the absence of clear genetic test results/whilst awaiting results, and (2) how to monitor disease progression and response to treatment. A systematic literature review was undertaken to contextualise and inform the recommendations.
UNASSIGNED: An algorithm was developed for the diagnosis and treatment of children with suspected PFIC. The algorithm recommends the use of licensed inhibitors of ileal bile acid transporters as the first-line treatment for patients with PFIC and suggests that genetic testing be used to confirm genotype whilst treatment is initiated in patients in whom PFIC is suspected. The authors recommend referring patients to an experienced centre, and ensuring that monitoring includes measurements of pruritus, serum bile acid levels, growth, and quality of life following diagnosis and during treatment.
UNASSIGNED: The algorithm presented within this paper offers guidance to optimise the management of paediatric PFIC. The authors hope that these recommendations will help to standardise the management of PFIC in the absence of clear clinical guidelines.
UNASSIGNED: This opinion paper outlines a consistent approach to the contemporaneous diagnosis, monitoring, referral and management of children with progressive familial intrahepatic cholestasis. This should assist physicians given the recent developments in genetic diagnosis and the availability of effective drug therapy. This manuscript will also help to raise awareness of current developments and educate health planners on the place for new drug therapies in progressive familial intrahepatic cholestasis.
摘要：
■进行性家族性肝内胆汁淤积症（PFIC）与一组罕见的，衰弱，肝脏疾病通常存在于儿童早期，但在成人中也有报道。如果没有早期发现和有效治疗，PFIC可导致终末期肝病。本文的目的是提出建议，以促进临床实践中PFIC管理的标准化。
■由六名专家组成的委员会齐聚一堂，讨论医生在PFIC管理中面临的挑战。委员会就优化护理需要专家指导的两个关键领域达成了一致:(1)在没有明确基因检测结果/等待结果的情况下，如何诊断和治疗具有PFIC临床表现的患者。（2）如何监测疾病进展和对治疗的反应。进行了系统的文献综述，以说明建议的背景和信息。
■开发了一种用于诊断和治疗疑似PFIC儿童的算法。该算法建议使用许可的回肠胆汁酸转运蛋白抑制剂作为PFIC患者的一线治疗，并建议在怀疑PFIC的患者开始治疗时使用基因检测来确认基因型。作者建议将患者转诊到经验丰富的中心，并确保监测包括瘙痒的测量，血清胆汁酸水平，增长,以及诊断后和治疗期间的生活质量。
■本文提出的算法为优化儿科PFIC的管理提供了指导。作者希望这些建议将有助于在缺乏明确临床指南的情况下标准化PFIC的管理。
■本意见文件概述了同期诊断的一致方法，监测,进行性家族性肝内胆汁淤积患儿的转诊和治疗.鉴于基因诊断的最新进展和有效药物治疗的可用性，这应该有助于医生。该手稿还将有助于提高对当前发展的认识，并教育健康计划人员在进行性家族性肝内胆汁淤积的新药治疗中的位置。
■由六名专家组成的委员会齐聚一堂，讨论医生在PFIC管理中面临的挑战。委员会就优化护理需要专家指导的两个关键领域达成了一致:(1)在没有明确基因检测结果/等待结果的情况下，如何诊断和治疗具有PFIC临床表现的患者。（2）如何监测疾病进展和对治疗的反应。进行了系统的文献综述，以说明建议的背景和信息。
■开发了一种用于诊断和治疗疑似PFIC儿童的算法。该算法建议使用许可的回肠胆汁酸转运蛋白抑制剂作为PFIC患者的一线治疗，并建议在怀疑PFIC的患者开始治疗时使用基因检测来确认基因型。作者建议将患者转诊到经验丰富的中心，并确保监测包括瘙痒的测量，血清胆汁酸水平，增长,以及诊断后和治疗期间的生活质量。
■本文提出的算法为优化儿科PFIC的管理提供了指导。作者希望这些建议将有助于在缺乏明确临床指南的情况下标准化PFIC的管理。
■本意见文件概述了同期诊断的一致方法，监测,进行性家族性肝内胆汁淤积患儿的转诊和治疗.鉴于基因诊断的最新进展和有效药物治疗的可用性，这应该有助于医生。该手稿还将有助于提高对当前发展的认识，并教育健康计划人员在进行性家族性肝内胆汁淤积的新药治疗中的位置。
