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Alagille Syndrome

  • Posted on- Aug 12, 2015
  • 2034 Views

Alagille syndrome is a rare, inherited disorder. It can affect the liver, heart, eyes, bones, kidneys and nervous system. This disorder is present at birth, although it may not become apparent until later in life.

Often, patients with Alagille syndrome have a distinctive facial appearance.

Patients may have fewer than normal bile ducts in the liver.

A small number of patients go on to develop severe liver disease and require liver transplantation.

Causes of Alagille syndrome

The disease usually is inherited from one parent. A single copy of the diseased gene (received from either the mother or father) dominates the other normal gene and results in this disease.

There is more than half of a chance that a parent with Alagille syndrome will transmit this disorder to his or her child. Family members with Alagille syndrome may be affected very differently by the disorder.

Bile, composed of bilirubin, bile salts, cholesterol and metals such as copper, is produced in the liver and travels through small bile ducts in the liver into one large bile duct. It eventually flows into the intestines. Bile acids are necessary to absorb fat and certain vitamins. When the bile flow is decreased, each of its components builds up in the body, and the body is not able to properly absorb fat and vitamins. This causes a wide range of symptoms.

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