Antitrypsin Deficiency

Common Name(s)

Antitrypsin Deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Antitrypsin Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Antitrypsin Deficiency" returned 283 free, full-text research articles on human participants. First 3 results:

Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?
 

Author(s): Andjelo Beletic, Aleksandra Dudvarski-Ilic, Branislava Milenkovic, Ljudmila Nagorni-Obradovic, Mila Ljujic, Valentina Djordjevic, Dusko Mirkovic, Dragica Radojkovic, Nada Majkic-Singh

Journal: Biochem Med (Zagreb). 2014 ;24(2):293-8.

 

Alpha-1-antitrypsin deficiency (AATD), genetic risk factor for premature chronic obstructive pulmonary disease (COPD), often remains undetected. The aim of our study was to analyse the effectiveness of an integrative laboratory algorithm for AATD detection in patients diagnosed with ...

Last Updated: 27 Jun 2014

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Alpha-1-antitrypsin deficiency associated with the Mattawa variant.
 

Author(s): Beatriz Lara, Beatriz Martínez-Delgado, Maria Luisa Torres, Sandra Marín-Arguedas, Ana Bustamante, Marc Miravitlles

Journal: Arch. Bronconeumol.. 2013 Dec;49(12):548-50.

 

The most common deficiency alleles for alpha-1-antitrypsin deficiency (AATD) are Pi*S and Pi*S, but there are also other deficiency variants. This case report describes the first two cases of AATD detected in Spain resulting from the combination of a null Mattawa allele with a normal ...

Last Updated: 9 Dec 2013

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Alpha1-antitrypsin deficiency - diagnostic testing and disease awareness in Germany and Italy.
 

Author(s): Timm Greulich, Stefania Ottaviani, Robert Bals, Philipp M Lepper, Claus Vogelmeier, Maurizio Luisetti, Ilaria Ferrarotti

Journal: Respir Med. 2013 Sep;107(9):1400-8.

 

Alpha1-antitrypsin (AAT) deficiency, although largely under-diagnosed, is the underlying cause of approximately 1% of COPD cases. Lack of awareness leads to long delays in diagnostic testing. Subsequently, lifestyle and treatment choices with potentially positive effects on prognosis ...

Last Updated: 26 Aug 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Antitrypsin Deficiency" returned 52 free, full-text review articles on human participants. First 3 results:

Alpha-1-antitrypsin deficiency-associated panniculitis: a case report.
 

Author(s): André Laureano, Rodrigo Carvalho, Alexandra Chaveiro, Jorge Cardoso

Journal:

 

Panniculitis is a recognized, but rare complication of α1-antitrypsin (A1AT) deficiency. Less than 60 cases have been reported, mostly in the homozygous PiZZ variant. We report the case of a 55-year old woman with A1AT panniculitis associated with the heterozygous phenotype PiMS ...

Last Updated: 24 Jan 2014

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Distinguishing alpha1-antitrypsin deficiency from asthma.
 

Author(s): Dareen Siri, Humam Farah, D Kyle Hogarth

Journal: Ann. Allergy Asthma Immunol.. 2013 Dec;111(6):458-64.

 

To explore the relations that exist between α1-antitrypsin deficiency (AATD) and asthma and to evaluate practices for screening patients with asthma for this genetically determined condition in the context of current guidelines.

Last Updated: 25 Nov 2013

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The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis.
 

Author(s): Bruce C Trapnell, Maurizio Luisetti

Journal:

 

In 1963, five cases of alpha1-antitrypsin deficiency were reported in the scientific literature, as well as an attempt to treat pulmonary alveolar proteinosis by a massive washing of the lung (whole lung lavage). Now, fifty years later, it seems the ideal moment not only to commemorate ...

Last Updated: 15 Nov 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha-1-antitrypsin Deficiency; Liver Cirrhosis

 

Last Updated: 25 Feb 2013

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Safety Study of Gene Transfer Vector to Treat alpha1-antitrypsin Deficiency
 

Status: Not yet recruiting

Condition Summary: alpha1-antitrypsin Deficiency

 

Last Updated: 17 Jun 2014

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Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: Hereditary Emphysema (Alpha 1-antitrypsin Deficiency)

 

Last Updated: 19 May 2011

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