El síndrome de Alagille es una enfermedad congénita y poco frecuente, se transmite de forma autosómica dominante, con expresividad variable. Se caracteriza. Alagille syndrome is an uncommon pathology. It is found in 1/, live births. It is characterized by biliary duct hypoplasia associated with. Síndrome de Alagille: una enfermedad hereditaria (genética) que provoca anomalías hepáticas y otros problemas. Deficiencia de alfa-1 antitripsina: un.

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Summary and related texts. Changes in blood vessels.

Kidneys may be smaller, contain cysts, or simply work less efficiently. However, each person may experience symptoms differently. Additional information Further information on this disease Classification s 8 Gene s 1 Other website s 4. Bile is colored with a pigment called bilirubin.

A newborn may have jaundice for a few days or weeks until his or her liver works more effectively. Yellow skin or eyes. It may be passed from parent to child. However, about half the time, the mutation is new and not from a parent. In general, be aware of the symptoms listed above. Ask if your condition can be treated in other ways.

Renal manifestations in children with Alagille syndrome.

Privacy Policy Donate Today. Liver biopsy Heart and blood vessel tests Eye exams Spine X-ray Abdominal ultrasound Kidney function tests Genetic testing A diagnosis of Alagille syndrome is confirmed by a liver biopsy that shows fewer bile ducts than normal and at aagille 3 of these symptoms: Genetic testing and a discussion of the inherited risks within your family may help you make informed decisions about preventing this disease in future generations.


What are the symptoms of alagille syndrome? Your healthcare provider will figure out the best treatment for you based on: These characteristics may not be visible until after infancy. Enfermead treatment options increase, people with this condition live longer, more comfortable lives, especially if the condition is discovered early. When to call the doctor about alagille syndrome Alagille syndrome has wide-ranging effects that may be different as the years go by and your treatment may need to be changed.

Renal manifestations in children with Alagille syndrome.

Detailed information Article for general public English Svenska Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Lorem ipsum dolor sit amet, consectetur adipiscing elit. It alaglile helps digest fats and the fat-soluble vitamins A, D, E, and K. Your healthcare provider will perform an exam and obtain a medical history.

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The symptoms of Alagille syndrome may look like other medical conditions or problems. Know why a test or procedure is recommended and what the aalgille could mean. Other tests may be done to evaluate whether you have Alagille syndrome may include: In the first three — seven months, my daughter was hospitalized for Hepatitis A-B. Ask questions if you do not understand how to use medicines.


This is caused by narrower-than-normal blood vessels that take blood from the heart to the lungs. Before your visit, write down questions you enfegmedad answered. Health care resources for this disease Expert centres Diagnostic tests 79 Patient organisations 32 Orphan drug s 3. Your urine also can appear a darker color. Your stool may appear pale, gray, or white because of a lack of bile.

Alagille Syndrome

These changes in blood vessels can lead to serious health problems such as stroke. It appears in one out of 70, babies and occurs in both sexes. How is alagille syndrome diagnosed? Alagille syndrome is an inherited condition in which bile builds up in the liver because there are too few bile ducts to drain the bile. What is alagille syndrome? Other search option s Alphabetical list. Specialised Social Services Eurordis directory.

Inmy daughter was diagnosed with Alagille Syndrome in Cuba.

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