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antitrypsin deficiency

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https://www.readbyqxmd.com/read/28645458/pulmonary-3-he-magnetic-resonance-imaging-biomarkers-of-regional-airspace-enlargement-in-alpha-1-antitrypsin-deficiency
#1
Eric Lessard, Heather M Young, Anurag Bhalla, Damien Pike, Khadija Sheikh, David G McCormack, Alexei Ouriadov, Grace Parraga
RATIONALE AND OBJECTIVES: Thoracic x-ray computed tomography (CT) and hyperpolarized (3)He magnetic resonance imaging (MRI) provide quantitative measurements of airspace enlargement in patients with emphysema. For patients with panlobular emphysema due to alpha-1 antitrypsin deficiency (AATD), sensitive biomarkers of disease progression and response to therapy have been difficult to develop and exploit, especially those biomarkers that correlate with outcomes like quality of life. Here, our objective was to generate and compare CT and diffusion-weighted inhaled-gas MRI measurements of emphysema including apparent diffusion coefficient (ADC) and MRI-derived mean linear intercept (Lm) in patients with AATD, chronic obstructive pulmonary disease (COPD) ex-smokers, and elderly never-smokers...
June 20, 2017: Academic Radiology
https://www.readbyqxmd.com/read/28617828/erad-defects-and-the-hfe-h63d-variant-are-associated-with-increased-risk-of-liver-damages-in-alpha-1-antitrypsin-deficiency
#2
Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh
BACKGROUND: The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors. METHODS: We used an innovative approach combining yeast genetic screens with next generation exome sequencing to identify and functionally characterize the genes involved in 1ATD associated liver disease...
2017: PloS One
https://www.readbyqxmd.com/read/28564723/emerging-concepts-and-human-trials-in-alpha-1-antitrypsin-deficiency-liver-disease
#3
Jeffrey H Teckman
No abstract text is available yet for this article.
May 2017: Seminars in Liver Disease
https://www.readbyqxmd.com/read/28559523/the-first-report-of-two-cases-of-fatal-liver-injury-due-to-anti-tuberculosis-drugs-in-the-presence-of-alpha-1-antitrypsin-deficiency
#4
Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki
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. Here, we report for the first time, two patients of fatal liver injury due to anti-TB drugs in the presence of alpha-1 antitrypsin deficiency. Based on the triad of rapid loss in hepatocyte function, the onset of hepatic encephalopathy, and absence of a prior history of liver disease, the diagnosis of acute liver failure was established...
April 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28558837/long-term-clinical-outcomes-following-treatment-with-alpha-1-proteinase-inhibitor-for-copd-associated-with-alpha-1-antitrypsin-deficiency-a-look-at-the-evidence
#5
REVIEW
Franck F Rahaghi, Marc Miravitlles
Alpha-1 antitrypsin deficiency (AATD) is a common hereditary disorder caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT; also known as alpha 1-proteinase inhibitor, A1-PI). An important function of A1-PI in the lung is to inhibit neutrophil elastase, one of various proteolytic enzymes released by activated neutrophils during inflammation. Absence or deficiency of A1-PI leads to an imbalance between elastase and anti-elastase activity, which results in progressive, irreversible destruction of lung tissue, and ultimately the development of chronic obstructive pulmonary disease with early-onset emphysema...
May 30, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28553095/deterioration-of-quality-of-life-is-associated-with-the-exacerbation-frequency-in-individuals-with-alpha-1-antitrypsin-deficiency-analysis-from-the-german-registry
#6
Nikolas Bernhard, Philipp M Lepper, Claus Vogelmeier, Martina Seibert, Stefan Wagenpfeil, Robert Bals, Sebastian Fähndrich
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary disease that is associated with a higher risk to develop chronic obstructive pulmonary disease and liver cirrhosis. Previous cross-sectional studies on AATD individuals have shown a relationship between worse St George's Respiratory Questionnaire (SGRQ) scores and elevated exacerbation rate or high cigarette consumption. There is a lack of longitudinal data on the relationship between the exacerbation rate and worsening of SGRQ during disease...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28512995/alpha-1-antitrypsin-deficiency-related-panniculitis-two-cases-with-diverse-clinical-courses
#7
E R Storan, S M O' Gorman, P Hawkins, L Aalto, A Murphy, T Markham
Alpha-1-antitrypsin deficiency (AATD)-related panniculitis is an extremely rare and underdiagnosed entity, and there is a paucity of data on its treatment. We report two cases of AATD-related panniculitis. The first was a 24-year-old woman with known AATD who presented with painful leg ulcers refractory to treatment with corticosteroids and colchicine. She had a good response to α1-antitrypsin infusions but required dose adjustment due to flares in disease activity. The second case was a 38-year-old woman who presented with painful nodules on the legs refractory to corticosteroid therapy...
May 17, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28504839/the-pathological-trento-variant-of-alpha-1-antitrypsin-e75v-shows-non-classical-behaviour-during-polymerization
#8
Elena Miranda, Ilaria Ferrarotti, Romina Berardelli, Mattia Laffranchi, Marta Cerea, Fabrizio Gangemi, Imran Haq, Stefania Ottaviani, David A Lomas, James A Irving, Annamaria Fra
Severe alpha-1-antitrypsin deficiency (AATD) is most frequently associated with the alpha-1-antitrypsin (AAT) Z variant (E342K). ZZ homozygotes exhibit accumulation of AAT as polymers in the endoplasmic reticulum of hepatocytes. This protein deposition can lead to liver disease, with the resulting low circulating levels of AAT predisposing to early-onset emphysema due to dysregulation of elastinolytic activity in the lungs. An increasing number of rare AAT alleles have been identified in patients with severe AATD, typically in combination with the Z allele...
May 15, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28496314/treatment-of-lung-disease-in-alpha-1-antitrypsin-deficiency-a-systematic-review
#9
REVIEW
Ross G Edgar, Mitesh Patel, Susan Bayliss, Diana Crossley, Elizabeth Sapey, Alice M Turner
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition predisposing individuals to chronic obstructive pulmonary disease (COPD). The treatment is generally extrapolated from COPD unrelated to AATD; however, most COPD trials exclude AATD patients; thus, this study sought to systematically review AATD-specific literature to assist evidence-based patient management. METHODS: Standard review methodology was used with meta-analysis and narrative synthesis (PROSPERO-CRD42015019354)...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28486562/exogenous-alpha-1-antitrypsin-down-regulates-serpina1-expression
#10
Ahmad Karadagi, Helene Johansson, Helen Zemack, Sandeep Salipalli, Lisa-Mari Mörk, Kristina Kannisto, Carl Jorns, Roberto Gramignoli, Stephen Strom, Knut Stokkeland, Bo-Göran Ericzon, Danny Jonigk, Sabina Janciauskiene, Greg Nowak, Ewa C S Ellis
The main goal of the therapy with purified human plasma alpha1-antitrypsin (A1AT) is to increase A1AT levels and to prevent lungs from elastolytic activity in patients with PiZZ (Glu342Lys) A1AT deficiency-related emphysema. Potential hepatic gains of this therapy are unknown. Herein, we investigated the effect of A1AT therapy on SERPINA1 (gene encoding A1AT) expression. The expression of SERPINA1 was determined in A1AT or A1AT plus Oncostatin M (OSM) treated primary human hepatocytes isolated from liver tissues from A1AT deficient patients and control liver tissues...
2017: PloS One
https://www.readbyqxmd.com/read/28449136/-alpha-2-macroglobulin-serum-level-in-patients-with-alpha-1-antitrypsin-deficiency
#11
V Kotke, S Wiedmann, C Nell, C Vogelmeier, R Bals, T Greulich, A Klemmer
Background and objectives Alpha-2 Macroglobulin (A2M) is a plasma protein with proteolytic effects on many proteases. In patients with an inborn alpha-1 antitrypsin deficiency (AATD) the homeostasis between proteases and antiproteases is disturbed. The aim of this study was to compare the levels of AAT and A2 M in patients and controls. We hypothesized that in patients with AATD A2 M levels are elevated. Methods Patients with AATD (polymorphism Pi*ZZ, Pi*SZ, Pi*MZ and rare gene variants) as well as healthy volunteers (Pi*MM) were tested for A2 M and AAT levels...
April 27, 2017: Pneumologie
https://www.readbyqxmd.com/read/28448535/alpha-1-antitrypsin-supplementation-improves-alveolar-macrophages-efferocytosis-and-phagocytosis-following-cigarette-smoke-exposure
#12
Karina A Serban, Daniela N Petrusca, Andrew Mikosz, Christophe Poirier, Angelia D Lockett, Lauren Saint, Matthew J Justice, Homer L Twigg, Michael A Campos, Irina Petrache
Cigarette smoking (CS), the main risk factor for COPD (chronic obstructive pulmonary disease) in developed countries, decreases alveolar macrophages (AM) clearance of both apoptotic cells and bacterial pathogens. This global deficit of AM engulfment may explain why active smokers have worse outcomes of COPD exacerbations, episodes characterized by airway infection and inflammation that carry high morbidity and healthcare cost. When administered as intravenous supplementation, the acute phase-reactant alpha-1 antitrypsin (A1AT) reduces the severity of COPD exacerbations in A1AT deficient (AATD) individuals and of bacterial pneumonia in murine models, but the effect of A1AT on AM scavenging functions has not been reported...
2017: PloS One
https://www.readbyqxmd.com/read/28425234/alpha-1-antitrypsin-levels-and-polymorphisms-in-interstitial-lung-diseases
#13
Nalan Demir, Özlem Erçen Diken, Halil Gürhan Karabulut, Demet Karnak, Oya Kayacan
BACKGROUND/AIM: Alpha-1 antitrypsin deficiency may be a potential predisposing factor for interstitial lung fibrosis. We investigated alpha-1 antitrypsin levels and its polymorphisms in patients with interstitial lung disease. MATERIALS AND METHODS: A total of 103 interstitial lung disease patients were compared. RESULTS: The mean alpha-1 antitrypsin level in idiopathic interstitial pneumonia patients was 1.67 ± 0.33 g/L, and it was 1.54 ± 0...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28419579/erdj3-has-an-essential-role-for-z-variant-alpha-1-antitrypsin-degradation
#14
Nazli Khodayari, George Marek, Yuanqing Lu, Karina Krotova, Rejean Liqun Wang, Mark Brantly
Alpha-1-antitrypsin deficiency (AATD) is an inherited disease characterized by emphysema and liver disease. AATD is most often caused by a single amino acid substitution at amino acid 342 in the mature protein, resulting in the Z mutation of the alpha-1-antitrypsin gene (ZAAT). This substitution is associated with misfolding and accumulation of ZAAT in the endoplasmic reticulum (ER) of hepatocytes and monocytes, causing a toxic gain of function. Retained ZAAT is eliminated by ER-associated degradation and autophagy...
April 17, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28416015/costs-and-health-related-quality-of-life-in-alpha-1-antitrypsin-deficient-copd-patients
#15
Florian M Karl, Rolf Holle, Robert Bals, Timm Greulich, Rudolf A Jörres, Annika Karch, Armin Koch, Stefan Karrasch, Reiner Leidl, Holger Schulz, Claus Vogelmeier, Margarethe E Wacker
BACKGROUND: Alpha-1-Antitrypsin Deficiency (AATD) is an economically unexplored genetic disease. METHODS: Direct and indirect costs (based on self-reported information on healthcare utilization) and health-related quality of life (HRQL, as assessed by SGRQ, CAT, and EQ-5D-3 L) were compared between 131 AATD patients (106 with, 25 without augmentation therapy (AT)) and 2,049 COPD patients without AATD participating in the COSYCONET COPD cohort. The medication costs of AT were excluded from all analyses to reveal differences associated with morbidity profiles...
April 17, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28409899/genetic-variation-of-the-alpha-1-antitrypsin-gene-is-associated-with-increased-autoantibody-production-in-rheumatoid-arthritis
#16
Cormac McCarthy, Carl Orr, Laura Fee, Danielle M Dunlea, David J L Hunt, Eimear Dunne, Tomás P Carroll, Paul O'Connell, Geraldine McCarthy, Dermot Kenny, Ursula Fearon, Douglas J Veale, Emer P Reeves, Noel G McElvaney
OBJECTIVE: To examine the prevalence of alpha-1 antitrypsin (AAT) deficiency (AATD) in rheumatoid arthritis (RA), and to determine if AATD is associated with higher levels of rheumatoid factor (RF), antinuclear antibodies (ANA) and anti-citrullinated peptide auto-antibodies (ACPA). METHODS: RF, ANA and ACPA were measured by standard immunoturbidimetry, immunofluorescence and ELISA, respectively. Characterisation of AAT phenotypes was performed by isoelectric focussing and immunofixation...
April 13, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28408179/5-year-expression-and-neutrophil-defect-repair-after-gene-therapy-in-alpha-1-antitrypsin-deficiency
#17
Christian Mueller, Gwladys Gernoux, Alisha M Gruntman, Florie Borel, Emer P Reeves, Roberto Calcedo, Farshid N Rouhani, Anthony Yachnis, Margaret Humphries, Martha Campbell-Thompson, Louis Messina, Jeffrey D Chulay, Bruce Trapnell, James M Wilson, Noel G McElvaney, Terence R Flotte
Alpha-1 antitrypsin deficiency is a monogenic disorder resulting in emphysema due principally to the unopposed effects of neutrophil elastase. We previously reported achieving plasma wild-type alpha-1 antitrypsin concentrations at 2.5%-3.8% of the purported therapeutic level at 1 year after a single intramuscular administration of recombinant adeno-associated virus serotype 1 alpha-1 antitrypsin vector in alpha-1 antitrypsin deficient patients. We analyzed blood and muscle for alpha-1 antitrypsin expression and immune cell response...
June 7, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28380308/alpha-1-antitrypsin-pi-mz-genotype-is-associated-with-copd-in-two-racial-groups
#18
Marilyn G Foreman, Carla Wilson, Dawn L DeMeo, Craig P Hersh, Terri H Beaty, Michael H Cho, John Ziniti, Douglas Curran-Everett, Gerard Criner, John E Hokanson, Mark Brantly, Farshid N Rouhani, Robert A Sandhaus, James D Crapo, Edwin K Silverman
RATIONALE: Alpha-1 antitrypsin deficiency, primarily caused by homozygosity for the Z allele of the SERPINA1 gene, is a well-established genetic cause of chronic obstructive pulmonary disease (COPD). Whether the heterozygous PI MZ genotype for alpha-1 antitrypsin confers increased risk for COPD has been debated. OBJECTIVES: We analyzed 8271 subjects in the COPDGene Study, hypothesizing that PI MZ would independently associate with COPD and COPD-related phenotypes...
April 5, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28367219/alpha-1-antitrypsin-deficiency-presenting-with-mpo-anca-associated-vasculitis-and-aortic-dissection
#19
Bram M Voorzaat, Jan van Schaik, Stijn L P Crobach, Catharina S P van Rijswijk, Joris I Rotmans
The combination of alpha-1 antitrypsin (AAT) deficiency, ANCA-vasculitis, and aortic aneurysm has been rarely described in literature. We report an eventually fatal case in a 70-year-old patient who initially presented with giant cell arteritis and ANCA associated glomerulonephritis. Several years later, he presented with aortic dissection due to large vessel vasculitis, raising the suspicion of AAT deficiency, as two first-line relatives had chronic obstructive pulmonary disease, while they never smoked. This diagnosis was confirmed by AAT electrophoresis and immunohistochemistry on a temporal artery biopsy...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28364818/liver-transplantation-in-alpha-1-antitrypsin-deficiency
#20
REVIEW
Virginia C Clark
Alpha-1 antitrypsin (AAT) deficiency is a common inherited metabolic disorder caused by a point mutation in the SERPIN1A gene. A small portion of homozygous PI*ZZ individuals develop severe liver disease that requires liver transplantation. Posttransplant survival is excellent. The largest burden of advanced liver disease lies within the adult population rather than children. Evaluation of lung function in adults before transplant is essential because of the underlying risk for chronic obstructive pulmonary disease...
May 2017: Clinics in Liver Disease
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