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Related Concept Videos

Esophageal Achalasia01:27

Esophageal Achalasia

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Determining Bile Duct Density in the Mouse Liver
07:35

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Published on: April 30, 2019

[Alagille syndrome].

Mirta Ciocca1, Fernando Alvarez

  • 1Hepatología y Trasplante Hepático Pediátrico, Hospital Alemán, Buenos Aires, Argentina. mciocca@intramed.net

Archivos Argentinos De Pediatria
|December 11, 2012
PubMed
Summary
This summary is machine-generated.

Alagille syndrome (AS) is an inherited disorder affecting multiple body systems. Early diagnosis and management of symptoms like chronic cholestasis are crucial for patient outcomes.

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Area of Science:

  • Genetics and Medicine
  • Pediatric Diseases
  • Hepatology

Context:

  • Alagille syndrome (AS) is a rare, autosomal dominant multisystemic disorder.
  • Characterized by variable expression and major clinical features including chronic cholestasis, congenital heart disease, posterior embryotoxon, distinctive facial features, and butterfly vertebrae.
  • Caused by mutations in JAGGED1 (over 90%) and NOTCH2 genes.

Purpose:

  • To outline the key clinical manifestations of Alagille syndrome.
  • To discuss the genetic basis of AS, focusing on JAGGED1 and NOTCH2 mutations.
  • To review differential diagnoses and current treatment strategies for AS.

Summary:

  • Major clinical manifestations include chronic cholestasis, congenital heart disease, posterior embryotoxon, characteristic facial phenotype, and butterfly vertebrae.
  • Genetic mutations in JAGGED1 and NOTCH2 are the primary cause of Alagille syndrome.
  • Treatment involves managing cholestasis with choleretic agents and other medications; liver transplantation is reserved for cases of cirrhosis and liver failure.

Impact:

  • Facilitates accurate diagnosis by highlighting key clinical and genetic features.
  • Provides a foundation for understanding the pathophysiology of Alagille syndrome.
  • Informs clinical management strategies, from symptomatic treatment to surgical intervention, improving patient care and outcomes.