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 322 free, full-text research articles on human participants. First 3 results:

Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism.
 

Author(s): Katrin Milger, Lesca Miriam Holdt, Daniel Teupser, Rudolf Maria Huber, Jürgen Behr, Nikolaus Kneidinger

Journal:

 

Deficiency in the serine protease inhibitor, alpha-1 antitrypsin (AAT), is known to cause emphysema and liver disease. Other manifestations, including airway disease or skin disorders, have also been described. A 44-year-old woman presented to our emergency department with dyspnea ...

Last Updated: 25 May 2015

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SPARTA clinical trial design: exploring the efficacy and safety of two dose regimens of alpha1-proteinase inhibitor augmentation therapy in alpha1-antitrypsin deficiency.
 

Author(s): Susan Sorrells, Sandra Camprubi, Rhonda Griffin, Junliang Chen, Jaume Ayguasanosa

Journal: Respir Med. 2015 Apr;109(4):490-9.

 

Alpha1-antitrypsin deficiency (AATD) is an underdiagnosed genetic disorder that results in early-onset emphysema due to low serum levels of alpha1-proteinase inhibitor (alpha1-PI), leading to increased activity of tissue-damaging neutrophil elastase. Clinical outcomes of AATD may ...

Last Updated: 25 Mar 2015

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Infected tracheal diverticulum: a rare association with alpha-1 antitrypsin deficiency.
 

Author(s): Cecília Beatriz Alves Amaral, Sónia Silva, Salvato Feijó

Journal: J Bras Pneumol. ;40(6):669-72.

 

Tracheal diverticulum, defined as a benign outpouching of the tracheal wall, is rarely diagnosed in clinical practice. It can be congenital or acquired in origin, and most cases are asymptomatic, typically being diagnosed postmortem. We report a case of a 69-year-old woman who was ...

Last Updated: 22 Jan 2015

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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 58 free, full-text review articles on human participants. First 3 results:

Diagnosing α1-antitrypsin deficiency: how to improve the current algorithm.
 

Author(s): Noel G McElvaney

Journal: Eur Respir Rev. 2015 Mar;24(135):52-7.

 

Over the past 10-15 years, the diagnosis of α1-antitrypsin deficiency (AATD) has markedly improved as a result of increasing awareness and the publication of diagnostic recommendations by the American Thoracic Society (ATS)/European Respiratory Society (ERS). Nevertheless, the ...

Last Updated: 2 Mar 2015

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Long-term experience in the treatment of α1-antitrypsin deficiency: 25 years of augmentation therapy.
 

Author(s): Helmut Teschler

Journal: Eur Respir Rev. 2015 Mar;24(135):46-51.

 

Although it is often under-recognised, α1-antitrypsin deficiency (AATD) represents one of the most common genetic respiratory disorders worldwide. Since the publication of studies in the late 1980s, which demonstrated that plasma-derived augmentation therapy with intravenous α1-antitrypsin ...

Last Updated: 2 Mar 2015

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[Alpha-1-antitrypsin deficiency].
 

Author(s): Marion Bouchecareilh

Journal: Med Sci (Paris). 2014 Oct;30(10):889-95.

 

Alpha-1-antitrypsin (α1AT) deficiency is a genetic disorder that manifests as pulmonary emphysema and liver cirrhosis. α1AT deficiency is the most common genetic cause of liver disease in children and also an underappreciated cause of liver disease in adults. The prevalence in the ...

Last Updated: 14 Oct 2014

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Microbioma in Sputa From COPD With Alpha-1 Antitrypsin Deficiency
 

Status: Not yet recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 9 Sep 2015

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

Status: Recruiting

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

 

Last Updated: 2 Feb 2016

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Last Updated: 18 Jul 2015

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