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Alagille Syndrome

Alagille syndrome is characterized by an insufficient number of bile ducts inside the liver; paucity of the intrahepatic biliary system Alagille syndrome, Alagile syndrome, algille syndrome. We are now beginning to understand that this is again a spectrum of disease, some of which weíve even identified the genetic etiology. In the classic syndrome, it forms so-called Alagille syndrome.

Not just liver disease. These children may often have congenital heart disease, particularly involving the right side of the heart, with pulmonary stenosis. Sometimes all the way to a full-blown tetralogy of Fallot. They are very short little children, they have sort of an odd-looking face thatís rather triangular, and if you do a chest x-ray.

As opposed to the child with biliary atresia, this can be a lot more grumbling in itís onset. These children just might be a little bit cholestatic, but they itch. The itching is one of the biggest problems these children have. At least early on, their synthetic function is usually quite well preserved so they are yellow and they itch but everything else looks pretty reasonable. At that point, what you have to do is manage them aggressively for their symptoms, the worst one of course is the itching. Relatively speaking, only a few of them - probably somewhere less than 50%.

Okay, what other things cause obstructive jaundice in the neonatal period? Well thereís the gallbladder. Now we are going to run through a few gallbladder-type diseases. Well, first of all, choledochal cysts. This is another thing you just donít want to miss. Typically it presents in the somewhat older child, often a girl, school aged, and there is the so-called classic triad of an abdominal mass, right upper quadrant pain and intermittent jaundice. Well, thatís what the textbook says but of course you can see choledochal cysts present in infancy and you can see it missed as a diagnosis, presenting in adulthood.

In those that are missed as children, who are diagnosed as adults, one of the scary things is that if you have had that cyst sitting there for all of your life, you can actually develop cholangiocarcinoma in the cyst wall, and this is a horribly malignant disease which is often fatal, and often has already progressed far enough that you canít help these people with transplantation.

Alpha 1-antitrypsin deficiency. Turning away from the infections, the metabolic causes of chronic liver disease in children, by far and away the most common is alpha 1-antitrypsin deficiency. And if you remember, this is, generally speaking, associated with the ZZ phenotype. Occasionally you see it with some of the other phenotypes like MZ, but for purposes of keeping life simple, itís the ZZ phenotype, generally speaking. As I said before, these children may have presented in infancy with a high bilirubin which completely went away, the diagnosis may never have been made.

Cystic fibrosis. You normally think about this as being a disease involving the lungs. Interestingly, cirrhosis with portal hypertension can occur in cystic fibrosis, generally presenting in mid or older age children. Sometimes the liver disease is much more important than the lung disease in these children, and they may also present with portal hypertension and already developed cirrhosis. If theyíve got portal hypertension, you try to shunt some of these children if they are big enough, because of course we are very worried about transplanting children who may already have chronic lung disease.