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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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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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I was diagnosed as a zz genotype about two months ago. I am still looking for answers.
Calgarian, communicator, designer, geek, health care advocate & mom of 2 special needs kids. Fond of knitting, crochet, cats & coffee - lots of coffee.
My daughter has TBM tracheobronchomalacia, A1AD Alpha-1-antitrypsin deficiency and immunodeficiency problems.
I am very interested in learning more about Alpha 1 so I am hopeing this will help
Diagnosed 2008 Alpha 1 Antitrypsin Deficiency. Listed for lung transplant 8/2010. Bilateral transplant 7/2011. Diagnosed with AMR (antibody mediated rejection) late 2013. Receiving infusion...
I'm the communications specialist for the Alpha-1 Foundation. What? You never heard of Alpha-1? It's a genetic condition that causes lung/liver disease in people of all ages. Our mission, is to...
Diagnosed ZZ 1996. Single Right Lung transplant 07/02. Married 36 years, one daughter, Jessica, 27.

 

 

Alpha diagnosed in 2008, on augmentation therapy ever since.

 

For 5 1/2 years I was the AlphaNet coordinator for Florida, Puerto Rico and the Virgin Islands. I'm now communications manager for...
Double Transplant 10/95

 

due to Alpha-1

 

Norfolk Sentara

 

Norfolk Va.
I am married to Richard and we have 2 wonderful sons 17 and 20 years old. I have been a Hopkins pediatric infusion nurse for almost 30 years. I enjoy church, reading, cooking and my family. I...

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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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