Results 31 to 40 of about 124,197,172 (205)

Alpha-1-Antitrypsin Deficiency

Seminars in Liver Disease, 1998
Homozygous PIZZ alpha 1-antitrypsin deficiency, which has an incident of 1 in 1600 to 1 in 2000 live births, is the most common genetic cause of liver disease in children. It is also associated with chronic liver disease and hepatocellular carcinoma in adults. It is a well-known cause of pulmonary emphysema.
Paone G, Brantly M.
openaire   +5 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   +1 more source

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

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, Arnaldo José Noronha Filho, Rosa Maria Fernambel Marques e Silva, Thaís Ferrari da Cruz, Valeria de Oliveira Monteiro, Margareth Pio, Rogério Lopes Rufino   +6 more
doaj   +1 more source

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

Successful Outcome and Biliary Drainage in an Infant with Concurrent Alpha-1-Antitrypsin Deficiency and Biliary Atresia

Case Reports in Surgery, 2017
We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario.
Andrew W. Wang, Kimberly Newton, Karen Kling   +2 more
doaj   +1 more source

The first report of two cases of fatal liver injury due to anti-tuberculosis drugs in the presence of alpha-1 antitrypsin deficiency

International Journal of Mycobacteriology, 2017
Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation.
Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki   +3 more
doaj   +1 more source

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

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, S. V. Lapin, E. A. Surkova, O. Yu. Tkachenko, A. I. Budkova, V. I. Guseva, O. N. Titova, V. L. Emanuel, Areg A. Totolian   +8 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

Therapeutics: Alpha-1 Antitrypsin Augmentation Therapy

, 2017
Subjects with alpha-1 antitrypsin deficiency who develop pulmonary disease are managed following general treatment guidelines, including disease management interventions.
Lascano, Jorge, Campos, Michael, Michael Campos, Jorge Lascano   +3 more
core   +1 more source