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Doctor insights on: Alpha 1 Antitrypsin Aat Quant And Mutation Analysis

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I had a stoolanalysis done and found out that I have a high pH value (8.0) and an increased level of Alpha-1-Antitrypsin (34,2 U/ml). Whatdoesthismean?

I had a stoolanalysis done and found out that I have a high pH value (8.0) and an increased level of Alpha-1-Antitrypsin (34,2 U/ml). Whatdoesthismean?

Probably not much: Stool pH varies chaotically with diet and what bugs happen to be there. Stool antitrypsin is sometimes used to screen for protein-losing enteropathy. The units you give are not standard but I'll assume that they're elevated. If they are greatly above reference range, it's one more piece of information for the workup, suggesting at least some of the gut lining is significantly damaged. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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What is alpha-1 antitrypsin deficiency and what do I do about it?

What is alpha-1 antitrypsin deficiency and what do I do about it?

Genetic problem: Because of this gene mutation, body becomes deficient in Alpha -1 - antitrypsin protein and manifests as chronic lung disease, just like in COPD pts but affects a younger population and affects the bases of the lung more than the apices.. Fortunately it is available to take on a daily basis to bring the levels of a1at within 'normal' range. ...Read more

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If my grandmother had alpha-1 antitrypsin deficiency, should I be tested?

If my grandmother had alpha-1 antitrypsin deficiency, should I be tested?

Maybe: If one has a family history of homozygous alpha1antitrypsin deficiency, then one should consider testing, as even a carrier of this, especially one with the mz phenotype, may develop lung or liver diseases, in rare cases.If found to be a carrier, one should avoid tobacco, lung pollutants, and alcohol;and one should be vaccinated for hepatitis a and b.For more info, go to alpha1foundation, www.Alphaone.Org, . ...Read more

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Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Yes: With some variation, the form presenting in childhood can lead to liver failure and death if a liver transplant is not available. The chronic lung issues are disabling for some. ...Read more

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Which is the link btwn the alpha-1 antitrypsin deficiency and the emphysema ?

Which is the link btwn the alpha-1 antitrypsin deficiency and the emphysema ?

Proteases: Alpha-1-antitrypsin is a protease inhibitor. It is elevated in inflammation to keep the proteases in check which cause tissue damage. Its deficiency allows the neutrophil elastin protease to destroy elastin which are the necessary components in the elasticity of the lung and cause the destruction of the interstitial tissues and cause emphysema. ...Read more

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Can you tell me is alpha-1 antitrypsin always terminal?

Can you tell me is alpha-1 antitrypsin always terminal?

No: It may be mild or severe. You're born with it, you are likely to become short of breath in middle age (hopefully you are a non-smoker), and the liver disease may come on at any time in your life, or never. ...Read more

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Alpha-1-antitrypsin quantitation - will it tell me if I have a hereditary problem?

Alpha-1-antitrypsin quantitation - will it tell me if I have a hereditary problem?

AAT deficiency: Measurement of alpha-1-antitrypsin serum concentration is used to determine if a patient has the inherited disorder aat deficiency. If the aat serum level is greater than 80 mg/dl, it is unlikely that the patient has clinically significant aat deficiency. ...Read more

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Can you tell me which ages do alpha-1 antitrypsin deficency effect?

Can you tell me which ages do alpha-1 antitrypsin deficency effect?

Any: Shortness of breath usually develops from the lung disease in the 40's. The liver disease can show up at any age from infancy to later middle age, or never. Nobody knows why. ...Read more

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What is alpha 1 antitrypsin deficiency?

What is alpha 1 antitrypsin deficiency?

Genetic disease: It's quite variable in severity. The lack of the helpful antitrypsin protein in the blood prevents the neutralization of enzymes from white cells that tend to decrease the elasticity of the lungs. The enzyme itself accumulates in the liver which can't get it into the circulation and this can ruin the liver. This can happen at any age and no one knows why it varies so much; or the liver may be fine. ...Read more

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What are alpha-1 antitrypsin deficiency tests like?

What are alpha-1 antitrypsin deficiency tests like?

Blood test: Blood, more accurately serum, is examined for levels of Alpha 1 at. Electophoresis of serum also reveals deficiency and a detailed electrophoresis, iso-electric focusing, provides details of the abnormal protein. Dna also can be tested to ascertain the abnormality in the gene. ...Read more