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Alpha-1 Antitrypsin Deficiency

What is Alpha-1 Antitrypsin Deficiency ?

Alpha-1 Antitrypsin Deficiency is a rare genetic disorder caused by damaged alpha 1-antitrypsin proteins whose purpose is to keep neutrophil elastase enzymes in check.

 

Alpha-1 Antitrypsin Deficiency is a rare genetic disorder caused by damaged alpha 1-antitrypsin proteins whose purpose is to keep neutrophil elastase enzymes in check.
Acknowledgement of Alpha-1 Antitrypsin Deficiency has not been added yet.
Prevalence Information of Alpha-1 Antitrypsin Deficiency has not been added yet.
Synonyms for Alpha-1 Antitrypsin Deficiency has not been added yet.
Alpha-1 antitrypsin deficiency is caused by mutations in the SERPINA1 gene. The normal version of the gene is termed M, while two common forms of these mutations are termed S and Z. Whereas most people have two copies of the M allele in each cell, those with mutated genes produce low levels of protein. Alpha-1 antitrypsin is an autosomal co-dominant inherited disorder. As with other autosomal conditions, the rate of inheritance is equal between males and females. Co-dominance occurs when each inherited version of the gene may be expressed and contribute to the genetic trait. Generally, the risk of developing alpha-1 antitrypsin deficiency is higher, at 25%, when there are two copies of the mutated gene than it is if only 1 parent passes the mutated gene on and the child becomes a carrier themselves (50%). This leaves a 25% chance that neither of the mutated genes will be passed on. Someone with two copies of the mutated gene is considered to be at a high risk of developing emphysema, whereas someone with one copy of the mutated gene has a small risk of developing lung disease.
Symptoms for Alpha-1 Antitrypsin Deficiency has not been added yet.
Diagnosis of Alpha-1 Antitrypsin Deficiency has not been added yet.
Diagnostic tests of Alpha-1 Antitrypsin Deficiency has not been added yet
Treatments of Alpha-1 Antitrypsin Deficiency has not been added yet.
Prognosis of Alpha-1 Antitrypsin Deficiency has not been added yet.
Name Description
RGI intern Because environmental factors, such as tobacco smoke, chemicals, and dust, may accelerate the progression of alpha-1 antitrypsin deficiency, exposure to these factors should be limited or avoided.
References of Alpha-1 Antitrypsin Deficiency has not been added yet.
Antibody Mediated Rejection Created by Larrconn
Last updated 9 Apr 2014, 10:20 PM

Posted by Larrconn
9 Apr 2014, 10:20 PM

Has anyone been affected with AMR or have any knowledge about it?

Exersize and Breathing Created by Larrconn
Last updated 13 Jul 2009, 04:57 PM

Posted by Larrconn
13 Jul 2009, 04:57 PM

For you Alpha's. To what extent can you perform day to day functions without having to sit and regain normal breathing? Are you receiving treatment? Would like to discuss all issues related to Alpha !.

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Visit sanfordresearch.org/CoRDS to enroll.

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Antibody Mediated Rejection

Created by Larrconn | Last updated 9 Apr 2014, 10:20 PM

Exersize and Breathing

Created by Larrconn | Last updated 13 Jul 2009, 04:57 PM


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