Biliary atresia is a rare condition in newborn children in which the biliary tract between the liver and the intestine is blocked or absent. If unrecognised, the condition leads to liver failure but not (as one might think) to kernicterus. It has no known cause, and the only effective treatment is by surgery. A rare disease has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. ... A human infant The word Infant derives from the Latin in-fans, meaning unable to speak. ... A bile duct is any of a number of long tube-like structures that carry bile. ... The liver is an organ in vertebrates, including humans. ... The intestine is the portion of the alimentary canal extending from the stomach to the anus and, in humans and mammals, consists of two segments, the small intestine and the large intestine. ... Liver failure is the final stage of liver disease. ... Kernicterus is damage to the brain centers of infants caused by jaundice. ...

Symptoms and diagnosis

Initially, the symptoms are indistinguishable from neonatal jaundice, a common phenomenon. Prolonged jaundice that is resistant to phototherapy and/or exchange transfusions should prompt a search for secondary causes. By this time, liver enzymes are generally measured, and these tend to be grossly deranged, hyperbilirubinaemia is conjugated and therefore does not lead to kernicterus. Ultrasound investigation or other forms of imaging can confirm the diagnosis. Jaundice, also known as icterus (adjective:Icteric), is yellowing of the skin, sclera (the white of the eyes) and mucous membranes caused by increased levels of bilirubin in the human body. ... Blood transfusion is the taking of blood or blood-based products from one individual and inserting them into the circulatory system of another. ... Liver function tests (LFTs or LFs), are groups of clinical biochemistry laboratory blood assays designed to give a doctor or other health professional information about the state of a patients liver. ... Kernicterus is damage to the brain centers of infants caused by jaundice. ... Medical ultrasonography (sonography) is an ultrasound-based diagnostic imaging technique used to visualize internal organs, their size, structure and any pathological lesions. ...

Pathophysiology

There is no known cause of biliary atresia, although it may be associated with a number of rare syndromes, such as malrotation of the intestine.

As the biliary tract cannot transport bile to the intestine, bile is retained in the liver and results in damage and the ultimate destruction of that organ. Bile (or gall) is a bitter, greenish-yellow alkaline fluid secreted by the liver of most vertebrates. ...

Treatment

If the intrahepatic biliary tree is unaffected, surgical reconstruction of the extrahepatic biliary tract is possible.

If the atresia is complete, only liver transplantation is a therapeutic option.

Links

E-medicine overview

Intro. to pediatric blood tests for liver function

Research Links

Choledochal cyst associated with extrahepatic bile duct atresia

Support groups

Biliary Atresia Network

Children's Liver Association for Support Services

Liver Families