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Dr. Andrew Rynne

Family Physician

Exp 50 years

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My child is suffering from genetic disease i.e. Alagille Syndrome

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Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3702 Questions

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Posted on Fri, 21 Dec 2018 in Genetics
Question: My child is suffering from genetic disease i.e. Alagille Syndrome . Main issue with her is that she is not growing in terms of weight and height. Till now she is doing well but have a poor diet.My question is that how this disease can be prevented and does she need liver transplantion in the future. As per the Doctor she has no complication in liver till now. There is some issue with her eyes and facial feature, She doesnt look like other child as she is 8 years old and looks like a 5 year old child.
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Answered by Dr. Diptanshu Das 2 hours later
Brief Answer:
There is not much that can be done to improve outcomes

Detailed Answer:
Thanks for using the Ask a Doctor service.

I have carefully gone through your query and understand your concern.

Alagille syndrome is a genetic disorder is inherited in an autosomal dominant pattern. So, it cannot be prevented although the severity of the disorder can vary within the same family, symptoms ranging from mild to unnoticed to severe heart and/or liver disease requiring transplantation.

Unfortunately, initial measures of hepatic function are not predictive of risk for transplantation or increased mortality. You should get an echocardiogram and periodically follow her up because she has the possibility of having a congenital heart disease.

Periodic ultrasounds of the liver also need to be done but there is not something significant that you can do to limit the progression. It is really good to hear that she is otherwise doing well and does not have significant symptoms.

However, since the primary problem involves the ducts of the liver, it is possible that she does not eat well or there can be a failure to thrive. It's recommended to visit a local dietician and have a custom diet chart prepared.

Children suffering from this ailment can have a typical look and there is hardly anything that we can do about it.

Feel free to write back.

Regards


Above answer was peer-reviewed by : Dr. Arnab Banerjee
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