Biliary atresia, intrahepatic, non syndromic form

Biliary Atresia, Intrahepatic, Non-Syndromic Form is a rare liver disease that affects infants, characterized by the obliteration or discontinuity of the intrahepatic bile ducts. This condition leads to the blockage of bile flow from the liver to the gallbladder, causing bile to accumulate in the liver and damage liver cells. Over time, this can lead to cirrhosis and liver failure. Unlike other forms of biliary atresia which can be associated with broader syndromic features, the non-syndromic form is isolated to the liver without additional systemic abnormalities.

Etiology

The exact cause of Biliary Atresia, Intrahepatic, Non-Syndromic Form, remains unknown. However, it is believed to involve a combination of genetic and environmental factors. There is no single gene identified as responsible, suggesting a multifactorial inheritance pattern. Environmental factors might include viral infections during pregnancy or early infancy that lead to an autoimmune response, damaging the bile ducts.

Pathophysiology

In Biliary Atresia, Intrahepatic, Non-Syndromic Form, the bile ducts within the liver are either underdeveloped or absent. This malformation prevents bile, a digestive fluid produced by the liver, from being transported to the gallbladder for storage and to the small intestine for aiding digestion. The accumulation of bile in the liver leads to liver cell injury, inflammation, and progressive liver fibrosis, potentially resulting in cirrhosis and liver failure if left untreated.

Symptoms

Infants with this condition typically present symptoms within the first few weeks of life. These symptoms may include:

• Jaundice (yellowing of the skin and eyes)
• Dark urine
• Pale stools
• Hepatomegaly (enlarged liver)
• Failure to thrive or weight loss
• Pruritus (itching)

Diagnosis

Diagnosis of Biliary Atresia, Intrahepatic, Non-Syndromic Form, involves a combination of clinical evaluation, laboratory tests, imaging studies, and sometimes liver biopsy. Tests may include:

• Blood tests to assess liver function
• Ultrasound to visualize the liver and bile ducts
• Hepatobiliary iminodiacetic acid (HIDA) scan to evaluate bile flow
• Liver biopsy to examine the structure of the liver and bile ducts

Treatment

The primary treatment for Biliary Atresia, Intrahepatic, Non-Syndromic Form, is surgical intervention to restore bile flow. The most common procedure is the Kasai procedure (portoenterostomy), which involves connecting the liver directly to the small intestine, bypassing the absent or damaged bile ducts. While this procedure can improve bile flow, it is not a cure, and many children may eventually require a liver transplant.

Prognosis

The prognosis for infants with Biliary Atresia, Intrahepatic, Non-Syndromic Form, varies. Early diagnosis and treatment can improve outcomes significantly. Without treatment, progressive liver damage can lead to liver failure within the first two years of life. Even with treatment, many children may develop complications such as cirrhosis, portal hypertension, and require liver transplantation.

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