Alagille Syndrome Essay

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----------------------- BY: KYLE NAVALTA What is it? Alagille syndrome is a genetic disease and an autosomal dominant disorder. Alagille syndrome is associated with abnormalities with the liver, heart, and several different parts of the human body. (1,2,4) ALAGILLE SYNDROME (Autosomal) [pic] Prevalence An estimated popularity of Alagille syndrome is 1 in 70,000 newborns. (4) Stages & Symptoms Alagille syndrome may accommodate symptoms like Liver: Jaundice which is the yellowish staining in the skin and whites of the eyes. There is also poor growth in the first few months of the infant’s life. Later, repeated Jaundice starts to increase, there is also poor growth in early childhood, and severe itching. Malabsorption which is the bowel does not properly absorb fats and fat-soluble vitamins. Kidneys: A wide range of kidney diseases can occur in Alagille syndrome. The kidneys can also have decreased function. (1,3) [pic] One of the major elements of Alagille disease is malfunctions to the liver. Liver damage can be caused by abnormalities in the bile ducts. Bile ducts carry bile from the liver to the gallbladder, and bile is what helps to digest fats.These bile ducts may be limited and tight, so the bile gets trapped and will build up inside the bile ducts which prevent the liver from working to its best ability (1,3). When this happens, the liver will not function properly to get rid of the wastes in the bloodstream. Heart: A heart murmur is the most common sign of Alagille syndrome other than liver disease. (1,2) [pic] Face: Many children with Alagille syndrome have deep-set eyes; a straight nose; a small, pointed chin; and a prominent, wide forehead.(1,2) [pic] On chromosome 20, in the region 20p12, it includes the JAG1 gene which signals neighbouring cells during the embryonic

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