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

Challenge of α-antitrypsin deficiency diagnosis in primary care.
 

Author(s): Qian Ye, Anthony D D'Urzo

Journal: Can Fam Physician. 2016 11;62(11):899-901.

 

Last Updated: 31 Dec 1969

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ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
 

Author(s): Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh

Journal:

 

The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence ...

Last Updated: 31 Dec 1969

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The first report of two cases of fatal liver injury due to anti-tuberculosis drugs in the presence of alpha-1 antitrypsin deficiency.
 

Author(s): Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki

Journal: Int J Mycobacteriol. ;6(2):187-190.

 

Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation. Here, we report for the first time, two patients of fatal liver ...

Last Updated: 31 Dec 1969

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

Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review.
 

Author(s): Ross G Edgar, Mitesh Patel, Susan Bayliss, Diana Crossley, Elizabeth Sapey, Alice M Turner

Journal:

 

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition predisposing individuals to chronic obstructive pulmonary disease (COPD). The treatment is generally extrapolated from COPD unrelated to AATD; however, most COPD trials exclude AATD patients; thus, this study sought ...

Last Updated: 31 Dec 1969

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Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.
 

Author(s): Maria J Chiuchiolo, Ronald G Crystal

Journal: Ann Am Thorac Soc. 2016 Aug;13 Suppl 4():S352-69.

 

Alpha-1 antitrypsin (AAT) deficiency, characterized by low plasma levels of the serine protease inhibitor AAT, is associated with emphysema secondary to insufficient protection of the lung from neutrophil proteases. Although AAT augmentation therapy with purified AAT protein is efficacious, ...

Last Updated: 31 Dec 1969

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Alpha-1 antitrypsin deficiency: An underrecognized, treatable cause of COPD.
 

Author(s): James K Stoller

Journal: Cleve Clin J Med. 2016 Jul;83(7):507-14.

 

Alpha-1 antitrypsin deficiency is common but underrecognized. Because delayed diagnosis is thought to be associated with adverse outcomes, clinicians are encouraged to follow available guidelines and test for the disease in all symptomatic adults with fixed airflow obstruction. The ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 31 Jan 2017

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

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 3 Apr 2018

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Alpha-1 Antitrypsin Deficiency Adult Liver Study
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 16 Jan 2018

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