Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study [PDF]
Background Alpha-1 antitrypsin deficiency (AATD) is the most common hereditary disorder in adults, but is under-recognized. In Spain, the number of patients diagnosed with AATD is much lower than expected according to epidemiologic studies.
Alcázar Navarrete, Bernardino +6 more
core +1 more source
ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN
Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation.
S. I. MELNIK +5 more
doaj +1 more source
Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review - Supplementary Material [PDF]
Research data used in the paper 'Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review.', Edgar RG, Patel M, Bayliss S, Crossley D, Sapey E, Turner AM, forthcoming in The International Journal of Chronic Obstructive Pulmonary ...
Bayliss, S. +5 more
core +2 more sources
Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis [PDF]
Alpha-1 antitrypsin deficiency (AATD) is a cause of bronchiectasis. Guidelines for bronchiectasis from the British Thoracic Society do not recommend to routinely test patients for AATD. In contrast, guidelines for AATD recommend routine screening.
Carreto, Luis +9 more
core +3 more sources
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
Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as under diagnosis, clinical variability, and limited treatment options for liver disease.
openaire +5 more sources
PROINFLAMMATORY CYTOKINE PROFILE IN PATIENTS WITH DIFFERENT ALPHA-1-ANTITRYPSIN PHENOTYPES
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
Does urinary peptide content differ between COPD patients with and without inherited alpha-1 antitrypsin deficiency? [PDF]
Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also ...
Carleo, Alfonso +7 more
core +2 more sources
A Review of Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin (AAT) is a protein that prevents enzymes such as elastin from degrading normal host tissue. Individuals who are deficient in AAT (those with levels < 11 micromol/L) are at risk for developing such clinical manifestations as emphysema, cirrhosis, panniculitis, and anticytoplasmic neutrophilic antibody (C-ANCA)-positive vasculitis ...
Justin, Ranes, James K, Stoller
openaire +4 more sources
Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency
Background Many patients with alpha-1 antitrypsin deficiency (A1ATD) receive care in respiratory clinics without access to specialist hepatology expertise. Liver disease can develop asymptomatically, and non-invasive markers of fibrosis may help identify
John R Hurst +5 more
doaj +1 more source

