Alagille Syndrome: Diagnostic Challenges and Advances in Management

Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, kidneys, and vasculature. The identification of JAG1 and NOTCH2 as disease-causing genes has deepened our under...

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Bibliographic Details
Published inDiagnostics (Basel) Vol. 10; no. 11; p. 907
Main Authors Ayoub, Mohammed D., Kamath, Binita M.
Format Journal Article
LanguageEnglish
Published MDPI 06.11.2020
MDPI AG
Subjects
Alagille syndrome
bile duct paucity
intestinal bile acid transporters
JAG1
NOTCH2
Review
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Summary:Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, kidneys, and vasculature. The identification of JAG1 and NOTCH2 as disease-causing genes has deepened our understanding of the molecular mechanisms underlying ALGS. However, the variable expressivity of the clinical phenotype and the lack of genotype-phenotype relationships creates significant diagnostic and therapeutic challenges. In this review, we provide a comprehensive overview of the clinical characteristics and management of ALGS, and the molecular basis of ALGS pathobiology. We further describe unique diagnostic considerations that pose challenges to clinicians and outline therapeutic concepts and treatment targets that may be available in the near future.
Bibliography:ObjectType-Article-2
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ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics10110907