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Alagille syndrome: Diagnostic challenges and advances in management

Diagnostics, ISSN: 2075-4418, Vol: 10, Issue: 11
2020
  • 44
    Citations
  • 0
    Usage
  • 93
    Captures
  • 188
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    44
  • Captures
    93
  • Mentions
    188
    • News Mentions
      188
      • 188

Most Recent News

Jadeite Medicines Receives Orphan Drug Designation for Odevixibat in Progressive Familial Intrahepatic Cholestasis (PFIC) from the Ministry of Health, Labour and Welfare of Japan and will also initiate Phase 3 Trial of Odevixibat in PFIC in Japan

TOKYO, June 20, 2023 /PRNewswire/ -- Jadeite Medicines Inc., (Jadeite Medicines) a clinical stage biopharmaceutical company headquartered in Tokyo, Japan (President & CEO, Eiichi Takahashi) has received

Review Description

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.

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