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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Nulla nec nisl non orci lacinia faucibus ut eu velit. Specialised Social Services Eurordis directory. How is alagille syndrome diagnosed? Kidneys may be smaller, snfermedad cysts, or simply work less efficiently. Key points Alagille syndrome is a genetic disorder in which you have fewer bile ducts than normal in your liver. Talk with your medical team to find out which signs and symptoms require immediate medical attention. The symptoms of Alagille syndrome may look like other medical conditions or problems.

Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the body.

For all other comments, please send your remarks via contact enfermerad. Bring someone with you to help you ask questions and remember what your aalagille provider tells you. Liver biopsy Heart and enfermedaad vessel enfsrmedad 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 least 3 of these symptoms: Alagille syndrome can make it hard for the body to use nutrients, such as fat-soluble vitamins.


Other blood vessels can also become smaller or unusually shaped. Alagille syndrome has wide-ranging effects that may be different as the years go by and your treatment may need to be changed. Global Genes is a non-profit c 3 corporation advocating for rare disease globally. Other tests may be done to evaluate whether you have Alagille syndrome may include: Bile ducts are the channels that move bile out of your liver.

Your healthcare provider will figure out the best treatment for you based on: As treatment options increase, people with this condition live longer, more comfortable enfermedsd, especially if the condition is discovered early. Medicine to increase bile flow out of the liver Medicine to relieve itching sensations Skin care, such as moisturizers, to reduce itching Vitamin supplements High-calorie food supplements Surgery to redirect bile so that less bilirubin ends up in your blood Liver transplant in the case of liver enfermexad.

Contact your healthcare provider if symptoms get worse despite treatment or if new symptoms appear.

Other tests may be done to evaluate whether you have Alagille syndrome may include:. Alagillf, about half the time, the mutation is new and not from a parent. What are the symptoms of alagille syndrome?

Treatment for Alagille syndrome can prevent or minimize complications and improve quality of life.


Professionals Guidance for genetic testing Englishpdf. If you have a follow-up appointment, write down the date, time, and purpose for aagille visit.

Symptoms of Alagille syndrome usually appear in the first two years of life. However, each person may experience symptoms differently.

Alagille Syndrome

It also helps digest fats and the fat-soluble vitamins A, D, E, and K. Summary and related texts.

Ask questions if you do not understand how to use medicines. Your age Your overall health and past health How sick you are How well you can handle specific medicines, procedures, or therapies How long the condition is expected to last Your opinion or preference Specific treatments for Alagille syndrome may include: Work closely with your medical team to increase bile flow and treat symptoms, such as itching, related to bile backup.

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An enlarged spleen is more likely to be injured, especially in sports play.