Biliary atresia, intrahepatic, syndromic form

Biliary Atresia, Intrahepatic, Syndromic Form

Biliary atresia is a rare and serious condition in infants where the bile ducts inside or outside the liver do not have normal openings. This article focuses on the intrahepatic, syndromic form of biliary atresia, which is a specific subtype of this condition.

Overview

Biliary atresia is a progressive disease of the bile ducts that occurs in infants. It is characterized by the obstruction or absence of bile ducts, leading to bile accumulation in the liver, which can cause liver damage and cirrhosis. The intrahepatic, syndromic form of biliary atresia is associated with other congenital anomalies and is part of a broader spectrum of syndromic conditions.

Pathophysiology

In the intrahepatic, syndromic form of biliary atresia, the bile ducts within the liver are malformed or absent. This leads to cholestasis, where bile cannot flow from the liver to the duodenum. The accumulation of bile in the liver causes inflammation and fibrosis, eventually leading to cirrhosis and liver failure if untreated.

Etiology

The exact cause of biliary atresia, particularly the intrahepatic, syndromic form, is not well understood. It is believed to be multifactorial, involving genetic predispositions and environmental factors. Some cases are associated with genetic syndromes such as Alagille syndrome, which involves mutations in the JAG1 or NOTCH2 genes.

Clinical Presentation

Infants with biliary atresia typically present with jaundice, dark urine, pale stools, and hepatomegaly. In the syndromic form, additional congenital anomalies may be present, such as cardiac defects, vertebral anomalies, and facial dysmorphisms.

Diagnosis

Diagnosis of biliary atresia involves a combination of clinical evaluation, laboratory tests, imaging studies, and sometimes liver biopsy. Ultrasound and hepatobiliary scintigraphy can help assess the bile ducts and liver function. A liver biopsy may show bile duct proliferation, portal tract edema, and fibrosis.

Treatment

The primary treatment for biliary atresia is the Kasai procedure, a surgical operation that creates a pathway for bile drainage from the liver to the intestine. If the Kasai procedure is unsuccessful or if liver damage is too advanced, liver transplantation may be necessary.

Prognosis

The prognosis for infants with biliary atresia depends on the success of the Kasai procedure and the extent of liver damage at the time of diagnosis. Early diagnosis and treatment improve outcomes, but many children may eventually require liver transplantation.

Also see

• Biliary atresia
• Alagille syndrome
• Cholestasis
• Liver transplantation