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Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine, 2010
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.Much work has been carried out on this condition with many questions being answered but still further questions remain.AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly.
Emer Kelly, Catherine M Greene, Tomáš P Carroll   +2 more
exaly   +8 more sources

Alpha-1 antitrypsin deficiency [PDF]

Archives of Disease in Childhood, 2001
α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention of abnormal polymerised α-1 antitrypsin in the endoplasmic reticulum of hepatocytes, and emphysema ...
Primhak, R.A., Tanner, M.S.
openaire   +4 more sources

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

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

Alpha-1 Antitrypsin Substitution for Extrapulmonary Conditions in Alpha-1 Antitrypsin Deficient Patients [PDF]

Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation, 2018
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder which most commonly manifests as pulmonary emphysema. Accordingly, alpha-1 antitrypsin (AAT) augmentation therapy aims to reduce the progression of emphysema, as achieved by life-long weekly slow-drip infusions of plasma-derived affinity-purified human AAT.
Boris M, Baranovski, Ronen, Schuster, Omer, Nisim, Ido, Brami, Yotam, Lior, Eli C, Lewis   +5 more
openaire   +2 more sources

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

Orphanet Journal of Rare Diseases, 2018
Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease. The Z variant can be diagnosed on isoelectric focusing (IEF) while Mmalton and Siiyama may be missed or misdiagnosed with this technique. Therefore, molecular analysis is mandatory for their characterization.
Callea F., Giovannoni I., Francalanci P., Boldrini R., Faa G., Medicina D., Nobili V., Desmet V. J., Ishak K., Seyama K., Bellacchio E.   +10 more
openaire   +5 more sources

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin. [PDF]

Journal of Clinical Investigation, 1989
alpha 1-Antitrypsin (alpha 1AT) deficiency is a hereditary disorder associated with reduced serum alpha 1AT levels and the development of pulmonary emphysema. An alpha 1AT gene is defined as "Null" when no alpha 1AT in serum is attributed to that alpha 1AT gene. Although all alpha 1AT Null genes have identical phenotypic consequences (i.e.
D, Curiel, M, Brantly, E, Curiel, L, Stier, R G, Crystal   +4 more
openaire   +2 more sources

Human neutrophils express the alpha 1-antitrypsin gene and produce alpha 1-antitrypsin [PDF]

Blood, 1991
The potent serine protease, neutrophil elastase (NE), is stored in neutrophil azurophilic granules, where it is available to degrade phagocytosed material and can be released by the cell to assist in tissue migration and help clear tissue debris.
R M, du Bois, J F, Bernaudin, P, Paakko, R, Hubbard, H, Takahashi, V, Ferrans, R G, Crystal   +6 more
openaire   +3 more sources

Alpha 1-Antitrypsin-Labor und Alpha 1-Antitrypsin-Register [PDF]

Pneumologie, 2004
R. Bals, C. Vogelmeier
openaire   +1 more source

The Role of Alpha-1 Antitrypsin in the Pathophysiology and Treatment of Inflammatory Lung Diseases. [PDF]

J Inflamm Res
Spittle DA, Turner AM.
europepmc   +1 more source