Results 11 to 20 of about 107,093 (255)

Alpha-1 antitrypsin deficiency

Medicina Clínica (English Edition), 1977
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.
Francisco Dasí
semanticscholar   +6 more sources

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Orphanet Journal of Rare Diseases
Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1.
Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko   +2 more
doaj   +2 more sources

ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN

Медицинский совет, 2017
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, M. V. PINEVSKAYA, E. A. ORLOVA, S. V. STAREVSKAYA, I. Y. MELNIKOVA, V. I. LARIONOVA   +5 more
doaj   +3 more sources

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Orphanet Journal of Rare Diseases, 2020
Background Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development.
Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman, Adam Wanner   +12 more
doaj   +2 more sources

Alpha-1-Antitrypsin Deficiency

Clinical Cases in Hepatology, 2021
The subject of this review is alpha-1-antitrypsin deficiency (A1AD), which is a rare hereditary disease with great impact in adults, especially smokers, quality of life and longevity. Early diagnosis is crucial for treatment outcome.
Nora V. Bergasa
semanticscholar   +2 more sources

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency

International Journal of COPD, 2020
Kylie BR Belchamber,1 Eloise M Walker,1 Robert A Stockley,1 Elizabeth Sapey1,2 1Birmingham Acute Care Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; 2NIHR Clinical Research Facility Birmingham, University ...
Belchamber KBR, Walker EM, Stockley RA, Sapey E   +3 more
doaj   +2 more sources

Augmentation Therapy for Severe Alpha-1 Antitrypsin Deficiency Improves Survival and Is Decoupled from Spirometric Decline—A Multinational Registry Analysis

American Journal of Respiratory and Critical Care Medicine, 2023
Rationale Intravenous plasma-purified alpha-1 antitrypsin (IV-AAT) has been used as therapy for alpha-1 antitrypsin deficiency (AATD) since 1987. Previous trials (RAPID and RAPID-OLE) demonstrated efficacy in preserving computed tomography of lung ...
D. Fraughen, Auyon J. Ghosh, B. Hobbs, G. Funk, T. Meischl, Christian F. Clarenbach, N. Sievi, K. Schmid-Scherzer, O. McElvaney, M. Murphy, A. Roche, Louise C. D. Clarke, M. Strand, F. Vafai-Tabrizi, G. Kelly, C. Gunaratnam, T. Carroll, N. G. Mcelvaney   +17 more
semanticscholar   +1 more source

Gene therapy for alpha-1 antitrypsin deficiency: an update

Expert Opinion on Biological Therapy, 2023
Introduction Altering the human genetic code has been explored since the early 1990s as a definitive answer for the treatment of monogenic and acquired diseases which do not respond to conventional therapies.
Debora Pires Ferreira, A. Gruntman, T. Flotte   +2 more
semanticscholar   +1 more source

Small airways disease in patients with alpha-1 antitrypsin deficiency.

Respiratory Medicine, 2023
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder, characterized by panacinar emphysema mainly in the lower lobes, and predisposes to chronic obstructive pulmonary disease (COPD) at a younger age, especially in patients with concomitant ...
Dimitrios Toumpanakis, O. Usmani
semanticscholar   +1 more source

Characteristics of individuals with alpha-1 antitrypsin deficiency from Northern and Southern European countries: EARCO international registry

European Respiratory Journal, 2023
The EARCO registry contains information on >1000 patients with AATD from 15 countries. The demographic characteristics and the disease characteristics are not significantly different in individuals from Northern or Southern European countries.
M. Miravitlles, A. Turner, M. Torres-Durán, H. Tanash, Carlota Rodríguez-García, J. López-Campos, J. Chlumsky, Catarina Guimarães, J. Rodríguez-Hermosa, A. Corsico, C. Martínez‐González, J. M. Hernández-Pérez, A. Bustamante, D. Parr, F. Casas-Maldonado, A. Hećimović, W. Janssens, B. Lara, M. Barrecheguren, Cruz González, J. Stolk, C. Esquinas, Christian F. Clarenbach   +22 more
semanticscholar   +1 more source