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Alagille syndrome is a rare genetic disorder that has an effect on the heart, liver, kidneys and other parts of the body. The severity and symptoms of the disease varies in each individual. The Alagille syndrome manifests during infancy, causing blockage of the bile flow from liver, yellowing of skin, pale, loose stools, severe itching, poor growth and weight gain. Other symptoms include heart murmurs, congenital heart defects, vertebral differences, distinctive facial features
HOW IS ALAGILLE SYNDROME DIAGNOSED?
Diagnosis of AS is done in Gastroenterology through: • Blood tests • X-ray • Urinalysis • USG of abdomen • Cardiology examinations • Liver biopsy • Slit lamp examination • Genetic tests
HOW IS ALAGILLE SYNDROME TREATED?
Most treatments available are aimed at improving the functioning of the heart and reducing the effects of impaired liver, kidney, and spleen function. Medications, surgery and angioplasty are the most common treatments for alagille syndrome.
DID YOU KNOW?
The estimated prevalence of Alagille syndrome is 1 in every 100,000 live births.