Alagille syndrome is a genetic disorder caused by problems with the bile ducts. It can affect your child’s liver, heart, kidneys and more.
Bile ducts carry an important fluid called bile from the liver to the gallbladder and small intestine to help your child’s body digest fat. Alagille syndrome is a genetic disorder that causes the bile ducts to be narrow, deformed or fewer in number, making it hard for your child’s body to carry the bile as needed. This causes bile to build up in your child’s liver, which can lead to liver damage and problems with the heart and kidneys.
Some serious heart abnormalities caused by Alagille syndrome include:
Your child may have only one, a few, or all of the symptoms and signs of Alagille syndrome. These symptoms may be mild or severe and can include:
Alagille syndrome is caused by a genetic defect that happens when there is a mutation (permanent change) in the DNA sequence of your child’s gene. This defect may be inherited from one parent or it may happen spontaneously, even if neither of the child’s parents carry the gene defect.
American Board of Pediatrics(Pediatric Transplant Hepatology),
American Board of Pediatrics,
American Board of Pediatrics/Gastroenterology