The diagnosis of Alagille syndrome usually depends upon finding several different components of the syndrome in an individual. Diagnosis is often based on the medical history, physical examination, and blood tests. Radiologic tests and liver biopsy (sampling tissue for analysis) may be necessary. Reduced bile flow is one finding that indicates alagille symdrome. Symptoms of reduced bile flow include jaundice, itching and cholesterol deposits in the skin. A liver biopsy may be done to show whether there are enough bile ducts in the liver. Liver function tests are blood tests used to assess the general state of the liver or biliary system. A nuclear scan may be done to show how much bile is flowing from the liver. A highly specialized test called a bile salt screen may be done to pinpoint Alagille syndrome from other conditions that cause liver disorders. Genetic testing is not routinely available.
More information on alagille syndrome
What is alagille syndrome? - Alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. What causes alagille syndrome? - Alagille syndrome is generally inherited from one parent and there is a 50 percent chance that each child will develop the syndrome. What're the symptoms of alagille syndrome? - Symptoms of alagille syndrome are jaundice, pale, loose stools, and poor growth within the first three months of life. How is alagille syndrome diagnosed? - The diagnosis of Alagille syndrome usually depends upon finding several different components of the syndrome in an individual. What's the treatment for alagille syndrome? - Treatment of Alagille syndrome is based on increasing the flow of bile from the liver, maintaining normal growth and development.
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