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What Is Alpha-1 Antitrypsin (AAT) Deficiency? Fact Sheet [PDF]
, 2023 Basic facts about alpha-1 antitrypsin deficiency, managing your alpha-1 antitrypsin deficiency, how alpha-1 antitrypsin deficiency affects ...
core
Exacerbations, health status and sibling pair comparisons in severe Alpha-1-Antitrypsin Deficiency [PDF]
, 2007 Alpha-1-Antitrypsin Deficiency (AATD) is a risk factor for the development of early-onset emphysema and airflow obstruction. The current work defines exacerbations, lung function and health status in these patients including sibling pairs.
Needham, Michelle
core +7 more sources
GE: Portuguese Journal of Gastroenterology, 2023 Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and is caused by mutations in the SERPINA1 gene. The homozygous Pi*Z variant is responsible for the majority of the classic severe form of alpha-1 antitrypsin deficiency ...
Nélia Abreu +3 more
doaj +1 more source
PROINFLAMMATORY CYTOKINE PROFILE IN PATIENTS WITH DIFFERENT ALPHA-1-ANTITRYPSIN PHENOTYPES
Медицинская иммунология, 2016 Alpha-1-antitrypsin (A1AT) exerts a wide spectrum of protective effects, being focused on reduction of secondary injury in inflammation. Moreover, A1AT inhibits some serine proteases, and down-regulates production of proinflammatory cytokines.
M. Yu. Pervakova +8 more
doaj +1 more source
BMC Research Notes, 2019 Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa +6 more
doaj +1 more source
Alpha 1 “Hereditary Emphysema” Experience: A Patient–Physician Perspective
Pulmonary Therapy, 2020 This article is co-authored by a patient living with alpha-1 antitrypsin deficiency, and her treating physician. The commentary article describes the patient’s experience of the diagnosis and treatment process.
Katie Moyer, Kamyar Afshar
doaj +1 more source
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.
Nate T. Gaeckle +2 more
openaire +2 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 C, Ioachimescu +1 more
openaire +4 more sources
Respiratory Medicine Case Reports, 2018 Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis.Here we report a ...
Zineb Jouhadi +8 more
doaj +1 more source
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes
PulmonologyAlpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on ...
Ilaria Ferrarotti +18 more
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