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.

Author: Voodookinos Voramar
Country: Colombia
Language: English (Spanish)
Genre: Education
Published (Last): 16 June 2007
Pages: 366
PDF File Size: 1.42 Mb
ePub File Size: 19.15 Mb
ISBN: 718-2-22549-656-1
Downloads: 49542
Price: Free* [*Free Regsitration Required]
Uploader: Akidal

For all other comments, please send your remarks via contact us. However, each person may experience symptoms differently. Talk with your medical team to find out which signs and symptoms require immediate medical attention. Your stool may appear pale, gray, or white because of a lack of bile. Follow us on Twitter Tweets by GlobalGenes.

Interactive Tools

In the first three — seven months, my daughter was hospitalized for Hepatitis A-B. 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.

Also write down any new instructions your healthcare provider gives you. Global Genes enfermead a non-profit c 3 corporation advocating for rare disease globally.

Moebius Syndrome Foundation Location: In general, be aware of the symptoms listed above. Step further 6 months, and there has been a whole history with multiple visits to the hospital for tests, consultations with specialists, in emergency room from stomach pains. This results in liver damage. Check this box if you wish to enfermedsd a copy of your message.

Ask if your condition can be treated in other ways. Treatment for Alagille syndrome can prevent or minimize complications and improve quality of life. Yellow skin or eyes. Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the body.


Renal manifestations in children with Alagille syndrome.

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. Enfermdead questions if you do not aalagille how to use medicines. Nulla nec nisl non orci lacinia faucibus ut eu velit. Connect Socially f t p y r. Know why a test or procedure is recommended and what the results could mean. This can cause the spleen to swell. Your urine also can appear a darker color.

White ring in the eye. Additional information Further information on this disease Classification s 8 Gene s 1 Other website s 4. 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.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Bring someone with you to help you ask questions and remember what your healthcare provider tells you. At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests.

Specialised Social Services Eurordis directory. Yellow growths enfermeedad xanthomas are small amounts of fat that collect under the skin because of high cholesterol levels in your body. Detailed information Article alaglile general public English Svenska What are the complications of alagill syndrome?

The blood vessels in the head and neck may be formed abnormally. Children with this condition may have deep-set eyes; a prominent, wide forehead; a straight nose; and a pointed, small chin.

Renal manifestations in children with Alagille syndrome.

My daughter is 23 years and is now being treated by the neurologist, by the gastroenterologist for her liver and is already developing cirrhosis. 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 zlagille include: Symptoms of Alagille syndrome usually appear in the first two years of life. Other tests may be done to evaluate whether you have Alagille syndrome may enfemedad.


It also helps digest fats and the fat-soluble vitamins A, D, E, and K. Bile ducts are the channels that move bile out of your liver.

Living with alagille syndrome Alagille syndrome affects many organs and aspects of your life. She is an angel of God. Health care resources for this disease Expert centres Diagnostic tests 79 Patient organisations 32 Orphan drug s 3. Other tests may be done to evaluate whether you have Alagille syndrome may include: However, about half the time, the mutation is new and not from a parent.

The body can use these alagiille only if they are combined with fat from the foods you eat. What is alagille syndrome? Kidneys may be smaller, contain cysts, or simply work less efficiently. As treatment options increase, people with this condition live longer, more comfortable lives, especially if the condition is discovered early.

Treatment needs to change over time, so it is important to work with your healthcare provider.