Department of Pediatrics, Faculty of Medicine, Rabigh Branch, King Abdulaziz University, Jeddah, Saudi Arabia.
Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Hepatol Int. 2023 Oct;17(5):1098-1112. doi: 10.1007/s12072-023-10578-x. Epub 2023 Aug 16.
Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems and is historically regarded as a disease of childhood. Since it is inherited in an autosomal dominant manner in 40% of patients, it carries many implications for genetic counselling of patients and screening of family members. In addition, the considerable variable expression and absence of a clear genotype-phenotype correlation, results in a diverse range of clinical manifestations, even in affected individuals within the same family. With recent therapeutic advancements in cholestasis treatment and the improved survival rates with liver transplantation (LT), many patients with ALGS survive into adulthood. Although LT is curative for liver disease secondary to ALGS, complications secondary to extrahepatic involvement remain problematic lifelong. This review is aimed at providing a comprehensive review of ALGS to adult clinicians who will take over the medical care of these patients following transition, with particular focus on certain aspects of the condition that require lifelong surveillance. We also provide a diagnostic framework for adult patients with suspected ALGS and highlight key aspects to consider when determining eligibility for LT in patients with this syndrome.
Alagille 综合征（ALGS）是一种复杂的罕见遗传性疾病，涉及多个器官系统，历史上被认为是一种儿童疾病。由于它在 40%的患者中以常染色体显性方式遗传，因此对患者的遗传咨询和家庭成员的筛查有很多影响。此外，由于表现存在显著的可变性，且基因型-表型相关性不明确，导致临床表现多种多样，即使是同一家庭内的受影响个体也是如此。随着胆汁淤积症治疗的治疗进展和肝移植（LT）存活率的提高，许多 ALGS 患者能够存活至成年。虽然 LT 可以治愈 ALGS 引起的肝病，但肝外受累引起的并发症仍然是终生存在的问题。本综述旨在为即将接手这些患者医疗护理的成年临床医生提供 ALGS 的全面综述，特别关注需要终生监测的某些方面。我们还为疑似 ALGS 的成年患者提供了诊断框架，并强调了在确定该综合征患者 LT 适应证时需要考虑的关键方面。
