Question 1

what exactly is alagille syndrome?

Accepted Answer

Genetic abnormality: Genetic abnormality, autosomal dominant, has multi-organ problems; affects liver/bile ducts, pulmonic heart valve, kidney, eye, bone, neurologic/mental problems, characteristic facial features.
Variable intensity of findings; can be dx'd infancy, milder cases as adult.  May need meds, vits, heart, liver surgery, even transplant. Variety of nutritional issues, vits a, d, e, k, zinc, fats, cholesterol.

Question 2

what are the tests for alagille syndrome?

Accepted Answer

Liver biopsy: Liver biopsy is probably the most effective means of diagnosis.  Many people with alagille syndrome do have characteristic facial features and some unusual x-ray findings but not in all cases.

Question 3

what sort of problem is alagille syndrome?

Accepted Answer

Alagille syndrome: Alagille syndrome is a genetic disorder  with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. In 1975, alagille et al described several patients with hypoplasia of the hepatic ducts. Typical facial features of alagille syndrome include broad forehead, deep-set eyes and pointed chin. More at: http://emedicine.Medscape.Com/article/926678-overview.

Question 4

alagille syndrome info needed. what is it?

Accepted Answer

Alagille syndrome: This is a genetic disorder affecting kidney, liver , heart and other systems. Usually seen in infancy and very early childhood. Face is very similar - deep set eyes, prominent broad forehead, pointed chin. Seeing that it is autosomal dominant there is no cure. Treatment is aimed at dealing with the abnormalities in the various systems affected.

Question 5

need some more info. about the causes and signs of alagille syndrome please help!?

Accepted Answer

Genetic disease: Alagille syndrome is a genetic disease which most importantly affects the liver.  Significant congenital heart disease also is common.  Over 90% of affected patients have a mutation or deletion in the jag1 gene.  The liver disease is characterized by abnormal bile ducts.  Each individual is affected differently, from mild effects to severe liver failure requiring transplantation.

Question 6

is their a medicine called  uuestrion for alagille syndrome?

Accepted Answer

Questran (cholestyramine): Questran (cholestyramine) is a medication that is used to reduce serum cholesterol. Alagille syndrome is often marked by high serum cholesterol..

Question 7

what is the treatment for alagille syndrome?

Accepted Answer

Supportive care: There is no known cure for this disease.  Treatment is directed toward improving heart effects and diminishing the effects of a failing liver.

Question 8

what type of mutation causes alagille syndrome?

Accepted Answer

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs.

Question 9

which chromosomal mutation occurs in alagille syndrome?

Accepted Answer

Alagille Syndrome is: Caused by an autisomal dominant mutation in the jagged-1 gene on the short arm of chromosome 20, 20p12. Because of "variable penetrance" some parents don't have noticeable symptoms,  especially if they have mosaicism, i.e., some, but not all, of their cells carry the mutation. Therefore, although 15% of cases are "sporadic, " i.e., from new mutations, it is recommended that parents be tested.

Question 10

is alagille syndrome autosomal dominant? can it be detected in utero?

Accepted Answer

Yes it is : It is autosomal dominant.

It would be difficult to detect but if a parent had it then your doctor would be very suspicious about it.

It is possible to do a amniocentesis and then a very special dna test on that fluid, but it would require a special lab to do the test, it is not in the routine.

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Alagille syndrome medication

A member asked:

What exactly is alagille syndrome?

A member asked:

What are the tests for alagille syndrome?

A member asked:

What sort of problem is alagille syndrome?

A member asked:

Alagille syndrome info needed. what is it?

A member asked:

Need some more info. about the causes and signs of alagille syndrome please help!?

A member asked:

Is their a medicine called uuestrion for alagille syndrome?

A member asked:

What is the treatment for alagille syndrome?

A member asked:

What type of mutation causes alagille syndrome?

A member asked:

Which chromosomal mutation occurs in alagille syndrome?

A member asked:

Is alagille syndrome autosomal dominant? can it be detected in utero?

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