Alagille syndrome

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Alagille syndrome (pronounced: al-uh-JEEL SIN-drome) is a genetic disorder that affects the liver, heart, and other parts of the body. It is named after the French pediatrician, Daniel Alagille, who first described the syndrome in 1969.

Etymology

The term "Alagille syndrome" is derived from the name of the French pediatrician, Daniel Alagille, who first described the condition. The term "syndrome" comes from the Greek word "syndromē," which means "concurrence."

Definition

Alagille syndrome is a genetic disorder characterized by abnormalities in the liver, heart, kidneys, and other systems of the body. The most common symptoms include a paucity of bile ducts within the liver, leading to cholestasis, and congenital heart disease.

Symptoms

The symptoms of Alagille syndrome can vary greatly from person to person. However, the most common symptoms include:

Causes

Alagille syndrome is caused by mutations in the JAG1 or NOTCH2 genes. These genes provide instructions for making proteins that are involved in the development of many tissues and organs before birth.

Diagnosis

Diagnosis of Alagille syndrome is based on a combination of clinical findings and genetic testing. The presence of at least three of the major symptoms (liver disease, heart disease, skeletal abnormalities, kidney disease, and distinctive facial features) suggests a diagnosis of Alagille syndrome.

Treatment

There is currently no cure for Alagille syndrome. Treatment is focused on managing the symptoms and preventing complications. This may include medications to improve bile flow, nutritional supplements, heart medications, and in severe cases, liver transplantation.

See also

External links

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