BuhlR_Alph-1-Antitrypsin+Deficiency

Alph-1-Antitrypsin Deficiency **Description: ** **Alph-1-antitrypsin Deficiency is a disorder that is produced in the liver and released into the blood. The lungs lack alph-1-antitrypsin coating which leaves the lungs open to damage by neutriphilelastase. It causes liver damage and lung damage. ** **Inheritance: **Alph-1 is an autosomal recessive disorder in which a child must inheritance abnormal genes from each parent to develop this disorder during offspring. If both parents are carriers of Alph-1-antitrypsin Deficiency, the child has a 50% they will be carriers and a 25% they will become infected by this disorder. If your infected the autosomal chromosome with defective copy of the disordered gene, Alph-1 antitrypsin protein, but they still have enough to protect their lungs. **Symptoms: ** This disorder damages the tiny air sacs in the lungs which are alveoli. When they are damaged the lungs aren’t able to expand good enough to breath properly. Therefore, because of this disorder many people develop: **Emphysema** -(begins at age of 45 or younger)  **Emphysema** makes you have difficulty time breathing, hacking coughs and a barrel-shaped chest. **Asthma **- if you have asthma it isn’t fully reversible from having a asthma attack while using inhalers, or other medication. **Chronic Bronchitis- **Infection within lungs due to bronchiectasis making the bronchi even more wider. **Bronchiectasis- **Makes your Bronchi more wider in size causing risk of infections. **<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">•Necrotizing panniculitis- **<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">patches of red spots on the skin which begin to burn. <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Unable to exercise <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Muscle cramps <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Unintentional weight loss, <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Rapid heartbeat <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Vision abnormalities. <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Lung Infections <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Wheezing <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Frequent cough <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Shortness of breath <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Light headed <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Headaches <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">-Colds <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Daily Life <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">media type="custom" key="9708028" <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">The 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. If you fail there test you are diagnosed with this disorder. They measure the lung and liver function which doctors may also do chest X-rays, pulmonary (lung) function tests, lung volume measurements and blood test to check liver function.
 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Diagnosis: **

**<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Doctors try to increase the amount of the disorder in a patient's blood with augmenation therpy. Each week, the patient is given injections of alpha-1-antitypsin from the blood of healthy donators. However, augmentation therapy does not cure alph-1-antitrypsin deficiency, it can slow its progress down. Therefore, the patient wont gain more sickness though out this experiece. Researches are currently experimenting with the gene therphy in which the patient is given the healthy gene by using a modified virus which also helps glow down the progress of this disorder.

**<span style="font-family: 'Times','serif'; font-size: 16px;">Bronchodilatorsto- **<span style="font-family: 'Times','serif'; font-size: 16px;"> Decrease all symptoms including lung Infections, wheezing, frequent cough, coughing, light headedness, and colds.

**<span style="font-family: 'Times','serif'; font-size: 16px;">Oxygen tanks- **<span style="font-family: 'Times','serif'; font-size: 16px;"> If you don’t have enough air it will pump though your longs, helps makes breathing easy.

**<span style="font-family: 'Times','serif'; font-size: 16px;">Yearly flu shot- **<span style="font-family: 'Times','serif'; font-size: 16px;"> Helps prevents colds, flu, and build up within lungs. It helps you breath a little better, without having shortness of air. **<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">There is currently alot of research being conducted on this disorder to solve and find a treatment or cure. There is prevention currently by increasing the amout of alpha-1-antitrypsin blood within a patient. Each week, an infected patient is given healthy blood given by a donator. (The donators are regular people with healthy blood just pure healthy) Then the patient is giving a healthy gene using a modified virus, to control bronchial symptoms. Doctors prescribe asthma medication such as inhaled steriods or bronchodilators. **<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Pictures: **
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**<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Resoures: ** <span style="color: black; font-family: 'Times','serif'; font-size: 16px;">The pictures above are from these following sites listed below: