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Alagille Syndrome

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Diseases of the Liver and Biliary Tree

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Abstract

Alagille syndrome is a rare, autosomal dominant disorder caused by defects in genes (JAG1 or NOTCH2) involved in the Notch signaling pathway and characterized by multisystem anomalies resulting from the abnormal development of intrahepatic bile ducts, heart, kidneys, bones, eyes, and vessels. After 50 years from its first description in 1969, this chapter provides a comprehensive overview of Alagille syndrome with particular regard to the associated liver disease. It defines the epidemiology of the disorder, explains the genetic basis and the pathogenesis of the disease, reviews the hepatic and extra-hepatic manifestations of ALGS, illustrates the modalities and the criteria needed for diagnosis, describes the cornerstones of disease management, and discusses unresolved questions and clinical challenges.

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Abbreviations

ALGS:

Alagille syndrome

LT:

Liver transplantation

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Authors and Affiliations

  1. Unit of Pediatric Gastroenterology, Digestive Endoscopy, Hepatology and Care of the Child with Liver Transplantation, Department for Woman’s and Child’s Health, University Hospital of Padova, Padova, Italy

    Paola Gaio & Mara Cananzi

  2. Unit of Pediatric Cardiology, Department for Woman’s and Child’s Health, University Hospital of Padova, Padova, Italy

    Elena Reffo

  3. Surgical Pathology and Cytopathology Unit, Department of Medicine (DIMED), University Hospital of Padova, Padova, Italy

    Claudia Mescoli

Authors
  1. Paola Gaio
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  2. Elena Reffo
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  3. Claudia Mescoli
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  4. Mara Cananzi
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Corresponding author

Correspondence to Mara Cananzi .

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Editors and Affiliations

  1. Scientific Consultant, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Negrar, Verona, Italy

    Annarosa Floreani

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Gaio, P., Reffo, E., Mescoli, C., Cananzi, M. (2021). Alagille Syndrome. In: Floreani, A. (eds) Diseases of the Liver and Biliary Tree. Springer, Cham. https://doi.org/10.1007/978-3-030-65908-0_4

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