Kennyk+Alpha-1+Antitrypsin+Deficiency

Alpha-1 Antitrypsin Deficiency
 * Description: **** Alpha-1 is caused by mutations in the serpinal gene on chromosones 14. this gene codes for an enzyme called alpha-1it is produced in the liver and released into the blood **


 * Inheritance: ****Alpha-1 is a recessive disorder. A kid must inherit one gene from each parent to develop the disease. If a kid inherits a normal gene from one parent and an abnormal gene from the other, the child will only be a carrier. Carriers produce lower-than-normal levels of the alpha-1 protein, but they still have enough of it to protect their lungs. **


 * Symptoms: ****Alpha-1 damages the tiny air sacs in the lungs. When the alveoli are damaged, the lungs aren't able to expand and contract well enough for the person to breathe normally. Patients may feel short of breath, and they may cough. As the lungs deteriorate, many patients develop lung diseases, such as emphysema, asthma, or chronic bronchitis. **


 * Daily Life: Living with this disease is a very hard thing to do it is very, very painful because in very rare cases people have to deal with ****developing hard and painful lumps under their skin, called panniculitis. **


 * Diagnosis: ****Alpha-1 antitrypsin deficiency is often misdiagnosed because its symptoms look a lot like the symptoms of asthma, bronchitis, or smoking-induced emphysema. Doctors can test for the disorder by checking a sample of the patient's blood for abnormal alpha-1 antitrypsin levels. To measure lung and liver function, doctors may also do chest x-rays, pulmonary (lung) function tests, lung volume measurements, and blood tests to check liver function. **


 * Treatment: ****Doctors try to increase the amount of alpha-1 antitrypsin in a person’s blood with therapy every week the person is given shots of alpha-1 from the blood of healthy donors. Although therapy does not cure alpha-1 it can slow its progression. **


 * Research: Researchers are currently experimenting with the therapy when the parent is given the healthy gene using a different virus. Not like the viruses that make people sick this virus is special and infects the person’s cell and causes them to start producing the normal gene **
 * Additional Facts: ****Alpha-1 is more common in Caucasians affecting 1 in 2,500 it is one of the most common recessive diseases among this population. This disorder is hard to spot because people are not really diagnosed until middle adulthood. It often is said that 95% of people who have alpha-1 have never been diagnosed. **


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