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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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. This results in liver damage. Your liver makes bile to help remove waste from your body.
Mom From Cuba Describes Daughter’s Battle Against Alagille Syndrome
It also helps digest fats and the fat-soluble vitamins A, D, E, and K. The body can use these vitamins only if they are combined with fat from the foods you eat. Bile ducts are the channels that move bile out of your liver. If you do not have enough of these ducts, bile builds up in your liver. It damages your liver tissues, and ultimately can cause your liver to fail.
As treatment options increase, people with this condition live longer, more comfortable lives, especially if the condition is discovered early. It may be passed from enfermedqd to child. It appears in one out of 70, babies and occurs in both sexes. However, about half the time, the mutation is new and not from a parent. Symptoms of Alagille syndrome usually appear in the first two years of life. The following are the envermedad common symptoms of Alagille syndrome. However, each person may experience symptoms differently.
The symptoms of Alagille syndrome may look like other medical conditions or problems. Always consult your healthcare provider for a diagnosis. Your healthcare provider will perform an exam and obtain a medical history. Other tests may be done to evaluate whether you have Alagille syndrome may include:. 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:.
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. Alagille syndrome has wide-ranging effects that may be different as the years go by and your treatment may need to enfwrmedad changed.
Talk with your medical team to find out which signs and symptoms require immediate medical attention. In general, be aware of the symptoms listed above.
Contact your healthcare provider if symptoms get worse despite treatment or if new symptoms appear. What is alagille syndrome? What causes alagille syndrome? What are the symptoms of alagille syndrome? Yellow skin or eyes. Bile is colored with a pigment called bilirubin. Your stool may appear pale, gray, or white because of a lack of bile. Your urine also can appear a darker color. A newborn may have jaundice for a few days enfemedad weeks until his or her liver works more effectively.
Alagille syndrome can make it hard for the body to use nutrients, such as fat-soluble vitamins. This can affect growth and normal development. Yellow growths called xanthomas are small amounts of fat that collect under the skin because of alagilpe cholesterol levels in your body.
This is caused by narrower-than-normal blood vessels that take blood from the heart to the lungs. Changes in blood vessels. The blood vessels in the head alagillf neck may be formed abnormally.
Other blood vessels can also become smaller or unusually shaped. These changes in blood vessels can lead to serious health problems such alabille stroke. Children with this condition may have deep-set eyes; a prominent, wide forehead; a straight nose; and a pointed, small chin. These characteristics may not be visible until after infancy. Kidneys may be smaller, contain cysts, or simply work less efficiently.
This can cause the spleen to swell. An enlarged spleen is more likely to be injured, especially in sports play.
Renal manifestations in children with Alagille syndrome.
White ring in the eye. A ring on the cornea, called a posterior embryotoxon, is alagillle classic sign of the syndrome. The ring is visible during an eye exam. How is alagille syndrome diagnosed? Other tests may be done to evaluate whether you have Alagille syndrome may include: Liver biopsy Engermedad 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 least 3 of these symptoms: How is alagille syndrome treated?
Your healthcare provider will figure out the best treatment for alagolle based on: 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: Medicine to increase bile flow out of the liver Medicine enferemdad relieve itching sensations Skin care, such as moisturizers, to reduce itching Vitamin supplements High-calorie food supplements Surgery to redirect enfermedsd so that less bilirubin ends up in your blood Liver transplant in the case of liver failure.
What are the complications of alagille syndrome? Can alagille syndrome be prevented? Living with alagille syndrome Alagille syndrome affects many organs and aspects of your life. Work closely with your medical team to increase bile flow and treat symptoms, such as itching, related to bile backup. Ask questions if you do not understand how to use medicines. Follow instructions for diet or lifestyle changes to improve health and comfort.
When to call the doctor alagille 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. Key points Alagille syndrome is a genetic disorder in which you have fewer bile ducts than normal in your liver. Alagille syndrome not only affects the liver, it can dde cause skin, heart, facial, kidney, and eye abnormalities. Treatment for Alagille syndrome can prevent or minimize complications and improve quality of life.
Treatment needs to change over time, so it is important to work with your healthcare provider. Next steps Tips to help you get the most from a visit to your healthcare provider: Know the reason alwgille your visit and what you want to happen.
Before your visit, write down questions you want answered. Bring someone with you to help alaggille 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. Also write down any new instructions your healthcare provider gives you. Know why a new medicine or treatment is prescribed, and how it will help you.
Also know what the side effects are. Ask if your condition can be treated in other ways. Know why a test or procedure is recommended and what the results could mean. Know what to expect if you do not take the medicine or have the test or procedure.
If you have a follow-up appointment, write down the date, time, and purpose for that visit. Know how you can contact your healthcare provider if you have questions.