Antitrypsin Deficiency

Common Name(s)

Antitrypsin Deficiency

Description for this condition is not yet available.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Comparison of non-invasive assessment of liver fibrosis in patients with alpha1-antitrypsin deficiency using magnetic resonance elastography (MRE), acoustic radiation force impulse (ARFI) Quantification, and 2D-shear wave elastography (2D-SWE).
 

Author(s): Rolf Reiter, Martin Wetzel, Karim Hamesch, Pavel Strnad, Patrick Asbach, Matthias Haas, Britta Siegmund, Christian Trautwein, Bernd Hamm, Dieter Klatt, Jürgen Braun, Ingolf Sack, Heiko Tzschätzsch

Journal:

 

Although it has been known for decades that patients with alpha1-antitrypsin deficiency (AATD) have an increased risk of cirrhosis and hepatocellular carcinoma, limited data exist on non-invasive imaging-based methods for assessing liver fibrosis such as magnetic resonance elastography ...

Last Updated: 31 Dec 1969

Go To URL
Therapeutic Genome Editing With CRISPR/Cas9 in a Humanized Mouse Model Ameliorates α1-antitrypsin Deficiency Phenotype.
 

Author(s): Mikael Bjursell, Michelle J Porritt, Elke Ericson, Amir Taheri-Ghahfarokhi, Maryam Clausen, Lisa Magnusson, Therese Admyre, Roberto Nitsch, Lorenz Mayr, Leif Aasehaug, Frank Seeliger, Marcello Maresca, Mohammad Bohlooly-Y, John Wiseman

Journal: EBioMedicine. 2018 Mar;29():104-111.

 

α1-antitrypsin (AAT) is a circulating serine protease inhibitor secreted from the liver and important in preventing proteolytic neutrophil elastase associated tissue damage, primarily in lungs. In humans, AAT is encoded by the SERPINA1 (hSERPINA1) gene in which a point mutation (commonly ...

Last Updated: 31 Dec 1969

Go To URL
Pulmonary langerhans cell histiocytosis - insight into the incidence of alfa-1-antitrypsin (A1ATD) deficiency alleles.
 

Author(s): Elżbieta Radzikowska, Radosław Struniawski, Joanna Chorostowska-Wynimko, Elzbieta Wiatr, Kazimierz Roszkowski-Śliż

Journal: Adv Respir Med. 2017 ;85(6):297-300.

 

The alpha-1 antitrypsin deficiency (A1ATD) is one of the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. There is no data regarding prevalence of main, clinically ...

Last Updated: 31 Dec 1969

Go To URL

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

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications.
 

Author(s): Kenneth R Chapman, Joanna Chorostowska-Wynimko, A Rembert Koczulla, Ilaria Ferrarotti, Noel G McElvaney

Journal:

 

Alpha 1 antitrypsin deficiency is a hereditary condition characterized by low alpha 1 proteinase inhibitor (also known as alpha 1 antitrypsin [AAT]) serum levels. Reduced levels of AAT allow abnormal degradation of lung tissue, which may ultimately lead to the development of early-onset ...

Last Updated: 31 Dec 1969

Go To URL
Clinical utility of alpha-1 proteinase inhibitor in the management of adult patients with severe alpha-1 antitrypsin deficiency: a review of the current literature.
 

Author(s): David G Parr, Beatriz Lara

Journal:

 

Alpha-1 antitrypsin (AAT) functions primarily to inhibit neutrophil elastase, and its deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). The putative protective serum concentration is generally considered to be above a threshold ...

Last Updated: 31 Dec 1969

Go To URL
Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.
 

Author(s): Franck F Rahaghi, Marc Miravitlles

Journal:

 

Alpha-1 antitrypsin deficiency (AATD) is a common hereditary disorder caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT; also known as alpha 1-proteinase inhibitor, A-PI). An important function of A-PI in the lung is to inhibit neutrophil elastase, one ...

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 3 Apr 2018

Go to URL
Alpha-1 Antitrypsin Deficiency Adult Liver Study
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 16 Jan 2018

Go to URL
Liver Disease in Patients With alpha1-antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: alpha1-antitrypsin Deficiency

 

Last Updated: 29 May 2017

Go to URL