Krausk+Alpha-1-trypsin+deficiency

Alpha-1-antitryspin deficiency Alpha-1-antitrypsin is made in the liver and released into the blood; this protects the lungs from attack by an enzyme called neutrophil elastase. When you have Alpha-1-trypsin deficiency, this does not happen. Instead, the abnormal Alpha-1-trypsin protein will get stuck in the liver and it can not pass into the blood system. Without this protein, the lungs are left to be attacked by neutrophil elatase.
 * Description: (TNR, 12, Bold) **


 * Inheritance: **

A child must inherit just one abnormal gene from each parent to get the disease. But, if a child inherits one abnormal gene from one parent and a normal gene from the other parent, the child will only be a carrier. The carriers for this disease will produce lower-than-normal levels of the Alpha-1-trypsin protein, but will have just enough to protect their lungs from neutrophil elastase. If both parents have this disease, the child will inherit this disease fully.

Alpha-1-antityrpsin deficiency damages tiny air sacs in the lungs. When this happens, the lungs are not able to expand and contract well enough for a person to breathe normally. Also, the person will cough or wheeze constantly. This will lead to emphysema, asthma, chronic bronchitis, etc.
 * Symptoms: **


 * Daily Life: **

 For someone who has Alpha-1-trypsin deficiency, it is very hard to breathe. The person will cough or wheeze repeatedly. Around 10% of infants and 10% of adults with the disorder also have liver damage. Sometimes they will develop painful lumps in their skin.


 * Diagnosis: **

Doctors can test for this disorder by checking the patients blood for Alpha-1-trypsin levels. Doctors can also use x-rays to measure their lung and their liver function. They can also do pulmonary (lung) function tests, lung volume measurements, and blood tests to check liver functions to test for this disease.

Doctors will try to get more Alpha-1-antitrypsin in the person’s blood by using augmentation therapy. Healthy blood donors could donate blood, than doctors will get the Alpha-1-tryspin from the blood and inject that into the patient. This does not cure the Alpha-1-trypsin deficiency, but it can slow it down. They are also experimenting with gene therapy (patient gets healthy gene using a modified virus, not the one that makes them sick).
 * Treatment: **

The gene therapy infects the patient’s cells which causes them to start making a normal gene. Doctors, right now, are also prescribing asthma medications like inhaled steroids or bronchodilators to control the bronchial systems.
 * Research: **

Alpha-1-trypsin is one of the most common autosomal recessive disorders among Caucasians. This disorder is only found/diagnosed until middle adulthood. This makes this disease hard to find in young people. It’s estimated that 95% of people who have Alpha-1-antitrypsin deficiency have never been diagnosed or found that they have this disease. Smoking makes this worse, also.
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