ALAGILLE (teratology), pulmonic stenosis ( impaired blood flow

ALAGILLE SYNDROME- It is caused by gene mutation or defect and can occur because of inheriting it from parents or it can also occur spontaneously. This disease affects many parts of the body including liver. The person having this syndrome have lesser number of bile ducts than the normal people. The bile ducts are helpful to carry the bile to the gallbladder for the storage and to the small intestine to help in digestion. But in this case, as the number if bile ducts are few, the bile start to accumulate in the liver leading to a serious liver disease, cholestasis. SYMPTOMS- LIVER PROBLEMS- this syndrome causes the deposition of fats in the skin, jaundice, dark urine or gray and white stools.HEART PROBLEMS- heart murmur (unusual sound heard during heartbeat), combination of heart defects (teratology), pulmonic stenosis ( impaired blood flow from heart to lungs.FACIAL FEATURES- people suffering from this syndrome have broad forehead, small chin, large ears etc. These features are unable to be recognised until infancy.NEUROLOGICAL PROBLEMS- some people with this syndrome have intellectual disabilities.PANCREATIC INSUFFICIENCY- this syndrome can also result into pancreatic insufficiency. In this case the pancreas doesn’t produce enough enzymes which results in the excretion of fats because they were not absorbed from the food. It leads to poor nutrition and growth.NUMBER OF PEOPLE AFFECTED-  It occurs about in the ratio of one to every 30,000 births. It affects males and females in equal numbers.TREATMENTS- It can be treated with the help of therapies and medications. They are helpful in promoting growth and development, increasing the flow of bile from the liver, treating nutritional deficiencies. End stage liver failure can be treated with the help of liver transplant. The fatty deposits on the skin can also be treated with the medications which are used for increasing the bile flow. Those who have poor absorption of fats are given special formulas for the absorption of fats.HOW IT MIGHT AFFECT THE LIFE OF THE PERSON OR LOVED ONES- FATALITY RATE- most of the severe cases are treated with the help of heart and liver transplant. But sometimes severe symptoms results in dangerous condition which can be fatal. The fatality chances are about 1 in 10 or 10%. The longevity of the person depends on the seriousness of the disease.       The gene mutations are inherited in autosomal dominant way, which means the child can get it from either parent. The chances of inheriting it is 50%. The person having mild alagille syndrome can also pass the gene mutations to the offspring.      

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