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Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine, 2010
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.Much work has been carried out on this condition with many questions being answered but still further questions remain.AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly.
Tomáš Carroll, Catherine Greene, Shane J O'Neill   +2 more
exaly   +12 more sources

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

International Journal of COPD, 2018
Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Chapman KR, Chorostowska-Wynimko J, Koczulla AR, Ferrarotti I, McElvaney NG   +4 more
doaj   +4 more sources

Alpha-1 antitrypsin deficiency [PDF]

Archives of Disease in Childhood, 2001
α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention of abnormal polymerised α-1 antitrypsin in the endoplasmic reticulum of hepatocytes, and emphysema ...
Primhak, R.A., Tanner, M.S.
openaire   +6 more sources

Alpha-1 Antitrypsin Deficiency and Pregnancy

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2020
Alpha-1 Antitrypsin Deficiency (A1AD) is a hereditary condition characterized by low levels of circulating alpha-antitrypsin (AAT) in plasma. It is the best understood genetic risk factor for the development of chronic obstructive pulmonary disease (COPD). The diagnosis of A1AD is under-recognized.
Ronald Reilkoff
exaly   +3 more sources

A Review of Alpha-1 Antitrypsin Deficiency

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2005
Alpha-1 antitrypsin (AAT) deficiency is a common but under-recognized disease. This hereditary disorder is characterized by low levels of AAT, and increased risks of panacinar emphysema at an early age, liver disease, vasculitis and panniculitis.
Octavian Ioachimescu, James Stoller
exaly   +5 more sources

COVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden [PDF]

Scientific Reports
We have previously found using questionnaire/interview data on COVID-19 outcomes, that most subjects with severe alpha-1-antitrypsin deficiency (AATD) exhibit mild COVID-19 infection and those who additionally have COPD are at increased risk of severe ...
Suneela Zaigham, Eeva Piitulainen, Hanan Tanash   +2 more
doaj   +2 more sources

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency

Acta Médica Portuguesa, 2022
Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining ...
Bebiana Conde, Filipa Costa, Joana Gomes, António Paulo Lopes, Maria Alexandra Mineiro, Orlando Rodrigues, Cristina Santos, Luísa Semedo, Maria Sucena, Catarina Guimarães   +9 more
doaj   +1 more source

Association of alpha-1 antitrypsin level and lung function in patients with chronic obstructive pulmonary disease [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction.
Serapinas Danielius, Nutautiene Ruta, Pukinskaite Ruta, Bartkeviciene Daiva, Barkauskiene Diana, Sakalauskas Raimundas   +5 more
doaj   +1 more source

Alpha-1 Antitrypsin Deficiency Liver Disease [PDF]

Clinics in Liver Disease, 2021
Liver disease in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency occurs due to the accumulation of large quantities of AAT mutant Z protein polymers in the liver. The mutant Z protein folds improperly during biogenesis and is retained within the hepatocytes rather than appropriately secreted.
Dhiren, Patel, Shannon L, McAllister, Jeffrey H, Teckman   +2 more
openaire   +3 more sources

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry

Respiratory Research, 2023
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder that can manifest as lung disease. A delay between onset of symptoms and diagnosis of AATD is common and associated with worse clinical status and more advanced disease stage ...
Tobias Meischl, Karin Schmid-Scherzer, Florian Vafai-Tabrizi, Gert Wurzinger, Eva Traunmüller-Wurm, Kristina Kutics, Markus Rauter, Fikreta Grabcanovic-Musija, Simona Müller, Norbert Kaufmann, Judith Löffler-Ragg, Arschang Valipour, Georg-Christian Funk   +12 more
doaj   +1 more source