Alagille 综合征：发病机制的现有认识，以及在诊断和管理方面的挑战。
Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management.
机构信息
Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada; Department of Pediatrics, Rabigh Branch, King Abdulaziz University, PO Box 80205, Jeddah 21589, Saudi Arabia.
Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
出版信息
Clin Liver Dis. 2022 Aug;26(3):355-370. doi: 10.1016/j.cld.2022.03.002. Epub 2022 Jun 25.
Alagille syndrome (ALGS) is a complex heterogenous disease with a wide array of clinical manifestations in association with cholestatic liver disease. Major clinical and genetic advancements have taken place since its first description in 1969. However, clinicians continue to face considerable challenges in the management of ALGS, particularly in the absence of targeted molecular therapies. In this article, we provide an overview of the broad ALGS phenotype, current approaches to diagnosis and with particular focus on key clinical challenges encountered in the management of these patients.
肝内胆管发育不良综合征（ALGS）是一种复杂的异质性疾病，伴有多种与胆汁淤积性肝病相关的临床表现。自 1969 年首次描述以来，已经取得了重大的临床和遗传进展。然而，在缺乏靶向分子治疗的情况下，临床医生在 ALGS 的管理方面仍然面临着相当大的挑战。本文概述了广泛的 ALGS 表型，当前的诊断方法，并特别关注在这些患者的管理中遇到的关键临床挑战。
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