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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
openaire   +6 more sources

Alpha-1 Antitrypsin Deficiency Liver Disease [PDF]

Clinics in Liver Disease, 2021
Liver disease in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency occurs due to the accumulation of large quantities of AAT mutant Z protein polymers in the liver. The mutant Z protein folds improperly during biogenesis and is retained within the hepatocytes rather than appropriately secreted.
Dhiren, Patel, Shannon L, McAllister, Jeffrey H, Teckman   +2 more
openaire   +4 more sources

Elucidating the mechanism of action of alpha-1-antitrypsin using retinal pigment epithelium cells exposed to high glucose. Potential use in diabetic retinopathy.

PLoS ONE, 2020
BACKGROUND:Alpha-1-antitrypsin is a protein involved in avoidance of different processes that are seen in diabetic retinopathy pathogenesis. These processes include apoptosis, extracellular matrix remodeling and damage of vessel walls and capillaries ...
María Constanza Potilinski, Gustavo A Ortíz, Juan P Salica, Emiliano S López, Mariano Fernández Acquier, Eduardo Chuluyan, Juan E Gallo   +6 more
doaj   +2 more sources

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency [PDF]

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   +5 more sources

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications

International Journal of COPD, 2018
Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Chapman KR, Chorostowska-Wynimko J, Koczulla AR, Ferrarotti I, McElvaney NG   +4 more
doaj   +2 more sources

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   +2 more sources

Serum Alpha-1 Antitrypsin Levels and the Clinical Course of Chronic Obstructive Pulmonary Disease

International Journal of COPD, 2019
Nozomu Takei,1,* Masaru Suzuki,1,* Hironi Makita,2 Satoshi Konno,1 Kaoruko Shimizu,1 Hiroki Kimura,1 Hirokazu Kimura,1 Masaharu Nishimura1,2 1Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University ...
Takei N, Suzuki M, Makita H, Konno S, Shimizu K, Kimura H, Kimura H, Nishimura M   +7 more
doaj   +2 more sources

Alpha-1-antitrypsin

Reactions Weekly, 2020
Alpha-1-antitrypsin is encoded by the human SERPINA1 gene. This protein plays a role in regulation of proteolysis.
semanticscholar   +3 more sources

Lung transplant outcomes for recipients with alpha-1 antitrypsin deficiency, by use of alpha-1 antitrypsin augmentation therapy [PDF]

JHLT Open
Background: For patients with alpha-1 antitrypsin (AAT) deficiency, AAT augmentation therapy can be an important part of care. However, for those who require a lung transplant (LT), there is currently only limited information to guide the use of AAT ...
Atharv V. Oak, MEng, Jessica M. Ruck, MD, PhD, Alfred J. Casillan, MD, PhD, Armaan F. Akbar, BS, Ramon A. Riojas, MD, PhD, Pali D. Shah, MD, Jinny S. Ha, MD, MHS, Sara Strout, PharmD, Allan B. Massie, PhD, Dorry L. Segev, MD, PhD, Christian A. Merlo, MD, MPH, Errol L. Bush, MD   +11 more
doaj   +2 more sources

Alpha 1 antitrypsin augmentation for alpha 1 antitrypsin deficiency associated lung disease. [PDF]

Cochrane Database Syst Rev
This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To assess the effects of alpha 1 antitrypsin augmentation therapy on respiratory disease in people with alpha 1 antitrypsin deficiency.
Glaister P, Hindle Robinson N, Ward A, Bentham C, Crossingham I.   +4 more
europepmc   +3 more sources