Alagille syndrome is a rare genetic disease that severely affects several organs, especially the liver and heart, and can be fatal. This disease is characterized by hepatic and biliary failure, leading to a buildup of bile in the liver, which prevents it from functioning normally to remove waste from the blood.
Symptoms continue to appear in childhood and can cause prolonged jaundice in newborns; In some cases, symptoms may go unnoticed, without causing serious damage and, in more severe cases, it may be necessary to transplant the affected organs.
- In addition to insufficiency of the bile ducts.
- Alagille syndrome causes a variety of signs and symptoms.
- Such as:.
In addition to these symptoms, liver failure can also occur gradually, heart and kidney abnormalities. In general, the disease stabilizes between the ages of 4 and 10, but in the presence of liver failure or heart damage, the risk of death is higher.
Alagille syndrome is an autosomal dominant disease, which means that if one of the child’s parents has this problem, the child is 50% more likely to have the disease; However, the mutation can also occur in the child, even if both parents are healthy. .
This disease is caused by alterations or mutations in the DNA sequence encoding a specific gene, located on chromosome 20, which is responsible for the normal functioning of the liver, heart and other organs, preventing them from functioning normally.
As it causes many symptoms, diagnosing this disease can be done in several ways, the most common being a liver biopsy.
Evaluation of signs and symptoms
If the skin is yellowish or if there are characteristic abnormalities of the face and spine, heart and kidney problems, eye disorders or developmental delay, the child will most likely have this syndrome; however, there are other ways to diagnose the disease. Disease.
Measuring the functioning of the pancreas
Tests may be done to evaluate the functioning of the pancreas, determine the amount of fat absorbed by the food consumed by the child, by analyzing the stool; however, more tests should be performed, as this test alone can be an indicator of other diseases.
Evaluation by a cardiologist
Your cardiologist can detect any heart problems using an echocardiogram, which involves an ultrasound of your heart to see structure and function, or by an electrocardiogram that measures your heart rate.
Evaluation by an ophthalmologist
Your ophthalmologist may perform a specialized eye exam to detect abnormalities, eye abnormalities, or any changes in retinal pigmentation.
X-ray spine evaluation
X-raying the spine can help detect the bones of the butterfly-shaped spine, which is the most common defect associated with this syndrome.
This disease has no cure, however, to improve symptoms and quality of life, medications are recommended to regulate the flow of bile, such as ursodiol and multivitamins with vitamin A, D, E, K, calcium and zinc in order to correct nutritional deficiencies that may occur due to the disease.
In more severe cases, surgery or even an organ transplant such as the liver and heart may be necessary.