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.
Answered 2/27/2014
6.1k views
A genetic disorder: Alagille syndrome is a genetic disorder that can mostly affect the liver, heart, kidney, and some other body systems. Symptoms can be very mild (unnoticeable) to severe (causing organ failure or needing transplantation surgery). A specific gene error (deletion) causes the condition which can be an autosomal dominant trait or sporadic. Treatments aim to lessen symptoms or treat affected organs.
Answered 6/25/2016
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