Alagille syndrome
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:
- Jaundice: A yellowing of the skin and eyes due to a buildup of bilirubin in the blood.
- Cholestasis: A condition caused by a lack of bile flow from the liver to the intestines.
- Congenital heart disease: Heart defects present at birth.
- Kidney disease: Problems with the function of the kidneys.
- Skeletal abnormalities: Including a broad forehead, deep-set eyes, and a small, pointed chin.
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
- Medical encyclopedia article on Alagille syndrome
- Wikipedia's article - Alagille syndrome
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