QuestionSBA
QuestionChoice
Physiological jaundice presents at day 2 or 3 of age, begins to disappear towards the end of the first week, and has usually resolved by day 10. Jaundice lasting longer than 14 days (prolonged jaundice) always warrants further investigation for more sinister pathology
33155
c
Physiological jaundice
QuestionChoice
Congenital rubella is a cause of early neonatal jaundice, with onset within less than 24 hrs, due to hepatic dysfunction by the rubella virus. This baby has presented with late jaundice and so this is less is unlikely
33157
e
Congenital rubella
QuestionChoice
G6PD is a cause of early neonatal jaundice, with onset within less than 24 hrs, due to haemolytic anaemia. This baby has presented with late jaundice and so G6PD is unlikely
33154
b
Glucose-6-phosphate dehydrogenase deficiency (G6PD)
QuestionChoice
Biliary atresia is the obliteration or blockage of the extrahepatic biliary system. It presents as prolonged jaundice in the neonate, lasting longer than 14 days in infants and 21 days in preterm infants. It is characterised by jaundice >14 days, dark urine, pale stools, and poor appetite
33153
a
Biliary atresia
QuestionChoice
Crigler-Najjar syndrome is a cause of early neonatal jaundice, with onset within less than 24 hrs, due to inborn errors in bilirubin metabolism. This baby has presented with late jaundice and so this is less is unlikely
33156
d
Crigler-Najjar syndrome
QuestionComment
What's the mechanism for the hepatosplenomegaly?
23115
QuestionComment
i think it's bc bile cannot flow out, so the 'traffic jam' results in hepatocellular damage. the congestion may result in increased resistance causing splenomegaly too (similar mechanism to how portal htn can cause splenomegaly?)
25992
User
subscriber
Kinin Polyps
User
subscriber
Jr.
QuestionComment
but the jaundice has only been present 3 days??
25818
User
subscriber
Nightshift Jargon
Concept
Chapter
# Summary
 
Biliary atresia is a severe liver disorder in which the bile ducts of a newborn are progressively fibrosed and destroyed, leading to conjugated hyperbilirubinaemia, liver failure, and death if left untreated. Its key signs and symptoms include prolonged jaundice and indications of biliary obstruction, such as dark urine and chalky white stool. Diagnosis primarily involves a suite of tests, including blood work, hepatic scintigraphy, abdominal ultrasound, and cholangiography. The main treatment strategy is surgical intervention, namely, hepatoportoenterostomy or the Kasai procedure.
 

# Definition
 
 
Biliary atresia is a rare but serious condition where the bile ducts in a newborn's liver undergo progressive fibrosis and destruction. This leads to conjugated hyperbilirubinaemia, liver failure, and if not treated promptly, death.
 

# Epidemiology
 

This condition predominantly affects newborns and is the most common cause of neonatal cholestasis. In the UK, it is estimated to affect 1 in 8,000-18,000 live births. Globally, it is the most common reason for paediatric liver transplants. 
 

# Aetiology
 

The cause of biliary atresia is unknown. It's believed to be likely due to a combination of genetic and environmental factors, potentially including an aberrant immune response to a viral infection affecting the bile ducts of the newborn.

20% of affected patients have co-existing congenital anomalies. 
 

# Signs and Symptoms
 

Patients with biliary atresia typically present with the following symptoms:
 

 -  Prolonged jaundice (i.e. jaundice persisting beyond 14 days of life or 21 days if preterm)
 -  Signs of biliary obstruction such as dark urine and pale or chalky white stool
 

# Differential Diagnosis
 

When examining a neonate with jaundice and symptoms suggestive of biliary obstruction, the differential diagnosis includes:
 

 -  **Alagille syndrome**: Presents with neonatal jaundice, peripheral pulmonary artery stenosis, and characteristic facial features.
 -  **Choledochal cyst**: Presents with the classic triad of abdominal pain, jaundice, and an abdominal mass.
 -  **Neonatal hepatitis**: This condition also presents with jaundice, along with hepatomegaly and elevated liver enzymes.
 -  **Inborn errors of metabolism**: Conditions such as galactosemia and tyrosinemia can present with jaundice, poor feeding, and developmental delay.
 

# Investigations
 

Investigations for biliary atresia include:

-  Blood tests: These will typically show raised conjugated bilirubin and deranged liver function tests.
     -  GGT is typically higher in biliary atresia than other causes of neonatal cholestasis
-  Hepatic scintigraphy (Technetium-99m scan): The liver will take up the isotope but there will be poor excretion into the bowel, indicating destroyed bile ducts.
-  Abdominal ultrasound: This may reveal echogenic fibrosis.
-  Cholangiography: This is the definitive diagnostic test, which will fail to show the normal architecture of the biliary tree, confirming biliary atresia.

Liver histology by percutaneous biopsy is the gold standard. 

Currently screening in the UK is not recommended for biliary atresia. 
 

# Management


The main management strategy for biliary atresia is surgical intervention:
 

 -  Hepatoportoenterostomy (Kasai procedure): This surgery creates a new pathway from the liver to the gut to bypass the fibrosed bile ducts.
 -  In severe cases where liver failure is advanced, transplantation may be required. 

#  Complications
 
Complications of biliary atresia include:
 
 - Ascending cholangitis following surgery 
 - Cirrhosis, portal hypertension and liver failure 
 - Osteomalacia or biliary rickets 

 
#  Prognosis 

Biliary atresia prognosis is dependent on the levels of fibrosis and management given. Survival of the native liver is poor - with only 10% of adults having their native liver 30 years after the Kasai procedure, highlighting the role of liver transplant. 
 

# NICE Guidelines

[NICE Clinical Knowledge Summary of Jaundice in the Newborn](https://cks.nice.org.uk/topics/jaundice-in-the-newborn/)
 
#  References

[Patient Info Biliary atresia](https://patient.info/doctor/biliary-atresia) 

[UK.GOC Health Screening Biliary Atresia](https://view-health-screening-recommendations.service.gov.uk/biliary-atresia/)
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Biliary atresia
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Paediatrics
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Biliary atresia
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Quesmed Tutorial: Biliary Disease (Surgery) 
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Biliary atresia
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Biliary atresia
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Biliary atresia is a condition involving the blockage or obliteration of the extrahepatic biliary system, presenting in neonates with prolonged jaundice lasting more than 14 days, dark urine, pale stools, and poor appetite.
A 19-day-old baby is brought to accident and emergency by her parents with jaundice and poor feeding for the last three days. On further questioning, they report she has been passing pale stools and dark urine over the last week. On examination, the baby is visibly jaundiced and has a distended abdomen with hepatosplenomegaly.

Which of the following is the most likely diagnosis?
a