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BILIARY ATRESIA
Prepared by: Faisal Janahi
Introduction
• Biliary atresia (BA) is a progressive, idiopathic, fibro-obliterative
disease of the extrahepatic biliary tree that presents with biliary
obstruction in the neonatal period.
• Bile flow obstruction into the intestine causes the bile to build up in
the liver and damage it. This damage leads to scaring of the liver
tissue and loss of liver functionality and eventually cirrhosis
TYPES OF BILIARY ATRESIA
1. Biliary atresia without any other anomalies or malformations
• Happens when children are born without jaundice, but within the first two
months of life, jaundice develops and stools become progressively acholic
2. Biliary atresia in association with laterality malformations
• Include situs inversus, asplenia or polysplenia, malrotation, interrupted inferior
vena cava, and cardiac anomalies
• Poorer outcomes due to the associated cardiac abnormalities
3. Biliary atresia in association with other congenital malformations
• Associated congenital malformations include intestinal atresia, imperforate anus,
kidney anomalies, and/or cardiac malformations
PATHOGENESIS
• The causes of BA are not well established and are probably
multifactorial; genetic factors may play a permissive role in some
cases.
• Several mechanisms may contribute to the development of BA:
1. Viral etiologies : including cytomegalovirus, reovirus, and group C rotavirus
2. Toxic etiologies: toxin-mediated inflammatory response
3. Genetic etiologies: Mutations in the CFC1 gene, Exome sequencing in 67
4. Immunologic etiologies: Immune dysregulation
CLINICAL FEATURES
• Prenatal findings
• Prenatal ultrasound identifies an abnormality suggesting BA, including a cyst
in the liver hilum or heterotaxy syndrome
CLINICAL FEATURES
• Signs and symptoms
• Jaundice: first sign and occurs any time from birth up to eight weeks of age
• Acholic stools
• Dark urine
• Firm, enlarged liver and splenomegaly

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ba.pptx

  • 1.
  • 3. Introduction • Biliary atresia (BA) is a progressive, idiopathic, fibro-obliterative disease of the extrahepatic biliary tree that presents with biliary obstruction in the neonatal period. • Bile flow obstruction into the intestine causes the bile to build up in the liver and damage it. This damage leads to scaring of the liver tissue and loss of liver functionality and eventually cirrhosis
  • 4. TYPES OF BILIARY ATRESIA 1. Biliary atresia without any other anomalies or malformations • Happens when children are born without jaundice, but within the first two months of life, jaundice develops and stools become progressively acholic 2. Biliary atresia in association with laterality malformations • Include situs inversus, asplenia or polysplenia, malrotation, interrupted inferior vena cava, and cardiac anomalies • Poorer outcomes due to the associated cardiac abnormalities 3. Biliary atresia in association with other congenital malformations • Associated congenital malformations include intestinal atresia, imperforate anus, kidney anomalies, and/or cardiac malformations
  • 5. PATHOGENESIS • The causes of BA are not well established and are probably multifactorial; genetic factors may play a permissive role in some cases. • Several mechanisms may contribute to the development of BA: 1. Viral etiologies : including cytomegalovirus, reovirus, and group C rotavirus 2. Toxic etiologies: toxin-mediated inflammatory response 3. Genetic etiologies: Mutations in the CFC1 gene, Exome sequencing in 67 4. Immunologic etiologies: Immune dysregulation
  • 6. CLINICAL FEATURES • Prenatal findings • Prenatal ultrasound identifies an abnormality suggesting BA, including a cyst in the liver hilum or heterotaxy syndrome
  • 7. CLINICAL FEATURES • Signs and symptoms • Jaundice: first sign and occurs any time from birth up to eight weeks of age • Acholic stools • Dark urine • Firm, enlarged liver and splenomegaly