Biliary atresia

Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. It can be congenital or acquired. It has an incidence of one in 10,000–15,000 live births in the United States, and a prevalence of one in 16,700 in the British Isles. Biliary atresia is most common in East Asia, with a frequency of one in 5,000. The cause of biliary atresia in Egyptian infants has been proven to be as a result of aflatoxin induced cholangiopathy acquired prenatally in infants who have glutathione S transferase M1 deficiency. The biliary atresia phenotype caused by congenital aflatoxicosis in GST M1 deficient neonates is named Kotb disease. Syndromic biliary atresia (e.g. Biliary Atresia Splenic Malformation (BASM)) has been associated with certain genes (e.g. Polycystic Kidney Disease 1 Like 1 - PKD1L1), and some infants with isolated biliary atresia may arise as a result of an autoimmune inflammatory response, possibly due to a viral infection of the liver soon after birth. In animals plant toxins have been shown to cause biliary atresia. The only effective treatments are operations such as the Kasai procedure and liver transplantation. Initially, the symptoms of biliary atresia are indistinguishable from those of neonatal jaundice, a usually harmless condition commonly seen in infants. However, infants with biliary atresia develop progressive conjugated jaundice, pale white stools, and dark urine. Some infants fail to thrive as there will be a degree of fat and fat-soluble vitamin malabsorption (e.g. Vitamin K). This may cause a bleeding tendency. Eventually, and usually after 2 months, cirrhosis with portal hypertension will develop. If left untreated, biliary atresia can lead to liver failure. Unlike other forms of jaundice, however, biliary-atresia-related cholestasis mostly does not result in kernicterus, a form of brain damage resulting from liver dysfunction.