alpha-1-antitrypsin deficiency
Diagnosis of alpha-1 antitrypsin deficiency: a population-based study
... Alpha-1 antitrypsin deficiency (AATD) is a congenital autosomical codominant condition characterized by low plasma levels of alpha-1 antitrypsin (AAT) in the blood and ...
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Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications
... Alpha 1 antitrypsin deficiency (AATD) is a hereditary genetic disorder characterized by low serum levels of alpha 1 protease inhibitor (A 1 -PI; also known as alpha ...
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Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
... Background: Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver ...Siiyama ...
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Alpha -1-antitrypsin deficiency, associated diseases and treatments: a review
... cirrhosis. Alpha 1-antitrypsin deficiency is heterogeneous genetic disorder due to mutation of chromosome no ...the deficiency of Alpha ...with alpha 1 ...
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Safety and efficacy of alpha-1-antitrypsin augmentation therapy in the treatment of patients with alpha-1-antitrypsin deficiency
... Abstract: Alpha-1-antitrypsin deficiency (AATD), also known as alpha1-proteinase inhibitor deficiency, is an autosomal co-dominant ...dysfunctional ...
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Cardiovascular and musculskeletal co-morbidities in patients with alpha 1 antitrypsin deficiency
... [1-3]. Alpha-1 antitrypsin deficiency (A1ATD) is an estab- lished genetic risk factor estimated to occur in 1-2% of patients with COPD, though generally under-recognised and the ...
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Endobronchial coil treatment in severe emphysema patients with alpha-1 antitrypsin deficiency
... Because alpha-1 antitrypsin deficiency (AATD) is a classical exclu- sion criterion in RCTs, there is no available data for ECT in ...multicenter 1:1 RCT which compared bilateral ...
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Hereditary alpha-1-antitrypsin deficiency and its clinical consequences
... Alpha-1-antitrypsin deficiency with its many genotypes and its manifestation in various organs is rarely observed in daily clinical practice and is frequently not diagnosed or ...to ...
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Regional lung densities in alpha-1 antitrypsin deficiency compared to predicted values
... AATD: Alpha-1 antitrypsin deficiency; COPD: Chronic obstructive pulmonary disease; CT: Computed tomography; DLCO: Diffusing capacity for carbon monoxide; EMA: European medicines agency; FDA: ...
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Alpha-1 antitrypsin deficiency: outstanding questions and future directions
... although it does not form intrahepatic polymers unless the Z allele is present in keeping with less retention in the hepatocytes, absence of liver disease and intermediate plasma levels [3–5]. Although much of the ...
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<p>New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency</p>
... Alpha-1 antitrypsin de fi ciency (AATD) is a rare genetic disorder characterized by low levels or dysfunctional forms of an altered alpha-1 antitrypsin (AAT) protein, which ...
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Heterozygous Alpha-1-Antitrypsin Deficiency and Respiratory Function in Children
... However, when subjects were matched to avoid other genetic or environmental biases, statistically significant differences in pulmonary function were noted in Pi type MZ children compared[r] ...
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Alternative transcripts of the SERPINA1 gene in alpha 1 antitrypsin deficiency
... Three QT-PCR assays (1A, 1B and 1C, Figure 1) were applied on the peripheral blood samples from 33 AAT deficient subjects and 7 controls with normal MM genotype of AAT (Figure 4a). Subjects were carriers of ...
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Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalised approach
... There is no doubt that augmentation therapy given intra- venously increases the nadir antigenic AAT level to one that is consistent with the lower level for the heterozygote (MZ pheno/genotype) that carries no or, at ...
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Recombinant DNA produced alpha 1 antitrypsin administered by aerosol augments lower respiratory tract antineutrophil elastase defenses in individuals with alpha 1 antitrypsin deficiency
... Alpha 1-Antitrypsin (alpha 1AT) deficiency is characterized by insufficient amounts of alpha 1AT to protect the lower respiratory tract from neutrophil elastase, resulting in ...
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Association of IREB2 and CHRNA3polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency
... We have identified that the chromosome 15q25 region likely contains at least one potential modifier gene of COPD phenotypes in individuals with severe AAT defi- ciency. The association may be due to smoking beha- vior, ...
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The effects of weekly augmentation therapy in patients with PiZZ α1-antitrypsin deficiency
... Materials and methods: Serum and exhaled breath condensate were collected from individuals with protease inhibitor phenotype ZZ AAT deficiency-related emphysema (n = 12) on the first, third, and seventh day after ...
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Alpha-1 proteinase inhibitors for the treatment of alpha-1 antitrypsin deficiency: safety, tolerability, and patient outcomes
... chest radiography in early disease may be normal or may show minimal change. This has led to interest in detecting disease earlier and permitting greater quantitative assessment through computed tomography (CT) scans of ...
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The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency
... Four hundred and twenty four unrelated Caucasian sub- jects from the UK national registry for AATD were studied. Ethical approval was given by the local ethics committee. All patients had a serum ...
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Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency
... Bronchial secretions of chronic obstructive pulmonary disease (COPD) patients with A1AT deficiency were observed to have increased levels of IL-8 and, in particular leukotriene B 4 (LTB 4 ). LTB 4 and IL-8 are ...
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