Results 1 to 10 of about 30,835,114 (202)

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression

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, Marie Francoise Odou, Farid Zerimech, Ahmed Aziz Bousfiha, Nabiha Mikou, Nicole Porchet, Michel Crepin, Jilali Najib, Malika Balduyck   +8 more
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, Laurel Stephenson, Ronald A. Reilkoff   +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, James K, Stoller   +1 more
openaire   +4 more sources

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes

Pulmonology
Alpha-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, Davide Piloni, Asia Filosa, Stefania Ottaviani, Valentina Barzon, Alice Maria Balderacchi, Luciano Corda, Christine Seebacher, Sara Magni, Francesca Mariani, Paolo Baderna, Paola Confalonieri, Leonardo Iannacci, Silvia Mancinelli, Paola Putignano, Carlo Albera, Giulia Maria Stella, Maria Cristina Monti, Angelo Guido Corsico   +18 more
doaj   +1 more source

Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency

BMJ Open Respiratory Research, 2020
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, Elisha Pickett, Douglas Thorburn, Aileen Marshall, Bibek Gooptu, Syed Hamza Abbas   +5 more
doaj   +1 more source

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.
openaire   +4 more sources

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Orphanet Journal of Rare Diseases, 2018
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.
Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio   +10 more
doaj   +1 more source

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   +1 more source

Postponed diagnosis of alpha-1 antitrypsin deficiency [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2016
nema
Stojković-Lalošević Milica, Stjepanović Mihailo, Čolović Nataša, Marić-Živković Jasmina, Mihailović-Vučinić Violeta, Stojković Mirjana   +5 more
doaj   +1 more source

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   +1 more source