Antitrypsin Deficiency

Common Name(s)

Antitrypsin Deficiency

Description for this condition is not yet available.
 

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Condition Specific Organizations

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

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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Unusually difficult clinical presentation of an infant suffering from congenital Cytomegalovirus (CMV) infection combined with alpha 1-antitrypsin (A1AT) deficiency.
 

Author(s): Ines Potočnjak, Goran Tešović, Andrea Tešija Kuna, Mario Stefanović, Orjena Zaja

Journal:

 

Congenital Cytomegalovirus (CMV) infection and alpha 1-antitrypsin (A1AT) deficiency are separately well described entities, but their simultaneous occurrence can pose a special challenge to a clinician, especially dealing with optimal diagnostic as well as therapeutic approach. Congenital ...

Last Updated: 29 Oct 2014

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Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
 

Author(s): Beatriz Lara, Maria Teresa Martínez, Ignacio Blanco, Cristina Hernández-Moro, Eladio A Velasco, Ilaria Ferrarotti, Francisco Rodriguez-Frias, Laura Perez, Irene Vazquez, Javier Alonso, Manuel Posada, Beatriz Martínez-Delgado

Journal:

 

Severe Alpha-1 Antitrypsin (AAT) deficiency is a hereditary condition caused by mutations in the SERPINA1 gene, which predisposes to lung emphysema and liver disease. It is usually related to PI*Z alleles, and less frequent to rare and null (QO) alleles. Null-AAT alleles represent ...

Last Updated: 16 Oct 2014

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

Capitalizing on the autophagic response for treatment of liver disease caused by alpha-1-antitrypsin deficiency and other genetic diseases.
 

Author(s): Andrew S Chu, David H Perlmutter, Yan Wang

Journal: Biomed Res Int. 2014 ;2014():459823.

 

Alpha-1-antitrypsin deficiency (ATD) is one of the most common genetic causes of liver disease and is a prototype of liver diseases caused by the pathologic accumulation of aggregated mutant alpha-1-antitrypsin Z (ATZ) within liver cells. In the case of ATD-associated liver disease, ...

Last Updated: 15 Jul 2014

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Mysteries of α1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease.
 

Author(s): Raafe Ghouse, Andrew Chu, Yan Wang, David H Perlmutter

Journal: Dis Model Mech. 2014 Apr;7(4):411-9.

 

The classical form of α1-antitrypsin deficiency (ATD) is an autosomal co-dominant disorder that affects ~1 in 3000 live births and is an important genetic cause of lung and liver disease. The protein affected, α1-antitrypsin (AT), is predominantly derived from the liver and has ...

Last Updated: 10 Apr 2014

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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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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: 2 Dec 2014

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Last Updated: 18 Jul 2015

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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: 20 Apr 2015

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