Biliary atresia

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Biliary atresia
Synonyms	Extrahepatic ductopenia
Pronounce	N/A
Specialty	N/A
Symptoms	Jaundice, dark urine, pale stools, hepatomegaly
Complications	Cirrhosis, portal hypertension, liver failure
Onset	Neonatal period
Duration	Chronic
Types	N/A
Causes	Unknown, possibly genetic or environmental factors
Risks	Premature birth, congenital anomalies
Diagnosis	Ultrasound, liver biopsy, cholangiography
Differential diagnosis	Neonatal hepatitis, Alagille syndrome, cystic fibrosis
Prevention	N/A
Treatment	Kasai procedure, liver transplantation
Medication	N/A
Prognosis	Variable, depends on early intervention
Frequency	1 in 10,000 to 15,000 live births
Deaths	Significant if untreated

Biliary atresia

Other Names: Non-syndromic biliary atresia; Isolated atresia of bile ducts; Isolated Biliary atresia Biliary atresia is a condition in infants in which the bile ducts outside and inside the liver are scarred and blocked. Bile can’t flow into the intestine, so bile builds up in the liver and damages it. The damage leads to scarring, loss of liver tissue and function, and cirrhosis.

Epidemiology

Biliary atresia seems to affect females slightly more often than males, and Asians and African Americans more often than Caucasians. It is common for only one child in a pair of twins or within the same family to have the condition. There seems to be no link to medications or immunizations given immediately before or during pregnancy. Diabetes during pregnancy particularly during the first trimester seems to predispose to a number of distinct congenital abnormalities in the infant such as sacral agenesis, transposition of the great vessels and the syndromic form of biliary atresia.

Causes

Biliary atresia occurs when the bile ducts inside or outside the liver do not develop normally. The reason why this happens is unknown.

Symptoms

Newborns with this condition may appear normal at birth. However, jaundice (a yellow color to the skin and mucus membranes) develops by the second or third week of life. The infant may gain weight normally for the first month. After that point, the baby will lose weight and become irritable, and will have worsening jaundice. Other symptoms may include:

• Dark urine
• Enlarged spleen
• Floating stools
• Foul-smelling stools
• Pale or clay-colored stools
• Slow growth
• Slow or no weight gain

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms

• Acholic stools(Clay colored stools)
• Atretic gallbladder
• Conjugated hyperbilirubinemia
• Dark yellow urine
• Decreased liver function(Liver dysfunction)
• Elevated alkaline phosphatase(Greatly elevated alkaline phosphatase)
• Elevated gamma-glutamyltransferase level
• Elevated hepatic transaminase(High liver enzymes)
• Fat malabsorption
• Hepatomegaly(Enlarged liver)
• Prolonged neonatal jaundice(Prolonged yellowing of skin in newborn)
• Prolonged prothrombin time
• Severe failure to thrive(Severe faltering weight)

5%-29% of people have these symptoms

• Abnormal facial shape(Unusual facial appearance)
• Bile duct proliferation
• Cirrhosis(Scar tissue replaces healthy tissue in the liver)
• Hypopituitarism
• Hypothyroidism(Underactive thyroid)
• Ophthalmoplegia(Eye muscle paralysis)
• Periportal fibrosis
• Pruritus(Itching)
• Seizure
• Small for gestational age(Birth weight less than 10th percentile)
• Splenomegaly(Increased spleen size)

1%-4% of people have these symptoms

• Xanthelasma(Fatty deposits in skin around the eyes)

Diagnosis

The health care provider will perform a physical exam, which includes feeling the baby's belly area. The provider may feel an enlarged liver. Tests to diagnose biliary atresia include:

• Abdominal x-ray
• Abdominal ultrasound
• Blood tests to check total and direct bilirubin levels
• Hepatobiliary iminodiacetic acid (HIDA) scan, also called cholescintigraphy, to help determine whether the bile ducts and gallbladder are working properly
• Liver biopsy to determine the severity of cirrhosis or to rule out other causes of jaundice
• X-ray of the bile ducts (cholangiogram)

Treatment

An operation called the Kasai procedure is done to connect the liver to the small intestine. The abnormal ducts are bypassed. It is most successful if done before the baby is 8 weeks old. However, a liver transplant may still be needed.

Prognosis

Early surgery will improve the survival of more than one third of babies with this condition. The long-term benefit of a liver transplant is not yet known, but it is expected to improve survival. Possible Complications Complications may include:

• Infection
• Irreversible cirrhosis
• Liver failure
• Surgical complications, including failure of the Kasai procedure

NIH genetic and rare disease info

• NIH info on Biliary atresia

Biliary atresia is a rare disease.

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