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Journal articles on the topic 'Alpha 1-antitrypsin deficiency. Lungs alpha 1-Antitrypsin Deficiency. Lung Diseases'

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Published: 4 June 2021

Last updated: 8 February 2022

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1

MELNIK, S. I., M. V. PINEVSKAYA, E. A. ORLOVA, S. V. STAREVSKAYA, I. Y. MELNIKOVA, and V. I. LARIONOVA. "ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN." Medical Council, no. 9 (July 18, 2017): 166–70. http://dx.doi.org/10.21518/2079-701x-2017-9-166-170.

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Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation. Deficiency of alpha-1-antitrypsin is a potentially fatal hereditary disease, under-diagnosed by physicians of various specialities. The authors familiarize pediatricians with this hereditary disease, difficulties of its diagnosis and treatment. There are presented own author`s data on the diagnosis and the experience of the enzyme replacement therapy of alpha-1-antitrypsin deficiency with the drug INN «Alpha-1 antitrypsin human» (Respikam)

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Summ, O., N. Gregor, M. Marziniak, I. Gralow, IW Husstedt, and S. Evers. "Cluster Headache and Alpha 1-antitrypsin Deficiency." Cephalalgia 30, no. 1 (2009): 113–17. http://dx.doi.org/10.1111/j.1468-2982.2009.01897.x.

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Little is known about the pathophysiology of cluster headache (CH), one of the most debilitating primary headaches. Interestingly, associations of lung affecting diseases or lifestyle habits such as smoking and sleep apnoea syndrome and CH have been described. Certain genotypes for alpha 1-antitrypsin (α1-AT) are considered risk factors for emphysema. Our aim was to investigate possible associations between common genotypes of the SERPINA1 gene and CH. Our study included 55 CH patients and 55 controls. α1-AT levels in serum and the genotype were analysed. Patients CH characteristics were docum

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3

Topic, Aleksandra, Marija Stankovic, Aleksandra Divac-Rankov, et al. "Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases." Genetic Testing and Molecular Biomarkers 16, no. 11 (2012): 1282–86. http://dx.doi.org/10.1089/gtmb.2012.0152.

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4

Volynets, G. V., and A. V. Nikitin. "Pathophysiological aspects of liver damage in children with alpha-1-antitrypsin deficiency." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 1 (2020): 11–21. http://dx.doi.org/10.21508/1027-4065-2020-65-1-11-21.

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Alpha-1-antitrypsin deficiency is an autosomal recessive disease characterized by both liver damage and lung disease in children and adults because of a decrease in the serum protein content due to the mutations in the PI (proteinase inhibitor) gene. The majority of liver diseases are associated with a homozygous mutation of the Z allele. There are many variations of clinical manifestations of the liver disease in children with the PI*ZZ genotype. In the neonatal period, liver disease is usually cholestatic; and it is accompanied by a prolonged cholestatic jaundice, skin itching, which can be

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5

Hersh, Craig P. "Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine." F1000Research 6 (November 27, 2017): 2049. http://dx.doi.org/10.12688/f1000research.12399.1.

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Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations include bronchiectasis, necrotizing panniculitis and granulomatosis with polyangiitis. Despite the frequency and potential severity, AAT deficiency remains under-recognized, and there is often a delay in diagnosis. This review will focus on three recent updates that should serve to encourage testing and diagnosis of AAT deficiency: first, the publication o

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Tejwani, Vickram, and James K. Stoller. "The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency." Therapeutic Advances in Chronic Disease 12_suppl (January 2021): 204062232199569. http://dx.doi.org/10.1177/2040622321995691.

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Alpha-1 antitrypsin (AAT) deficiency (AATD) is an autosomal co-dominant condition that predisposes to the development of lung disease, primarily emphysema. Emphysema results from the breakdown of lung matrix elastin by proteases, including neutrophil elastase, a protease normally inhibited by AAT. AATD also predisposes to liver (cirrhosis) and skin (panniculitis) disease, and to vasculitis. The prevalence of AATD is estimated to be approximately 1 in 3,500 individuals in the United States. However, lack of awareness of AATD among some physicians, misperceptions regarding the absence of effecti

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Pervakova, M. Y., V. L. Emanuel, O. N. Titova, et al. "The Diagnostic Value of Alpha-1-Antitrypsin Phenotype in Patients with Granulomatosis with Polyangiitis." International Journal of Rheumatology 2016 (2016): 1–5. http://dx.doi.org/10.1155/2016/7831410.

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The deficiency of alpha-1 protease inhibitor, or alpha-1-antitrypsin (A1AT), predisposes to chronic lung diseases and extrapulmonary pathology. Besides classical manifestations, such as pulmonary emphysema and liver disease, alpha-1-antitrypsin deficiency (A1ATD) is also known to be associated with granulomatosis with polyangiitis (GPA or Wegener’s granulomatosis). The aim of our study was to evaluate the frequency of allelic isoforms of A1AT and their clinical significance among GPA patients. Detailed clinical information, including Birmingham Vasculitis Activity Score (BVAS), incidence of lu

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Karatas, Esra, and Marion Bouchecareilh. "Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways." International Journal of Molecular Sciences 21, no. 4 (2020): 1493. http://dx.doi.org/10.3390/ijms21041493.

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Human cells express large amounts of different proteins continuously that must fold into well-defined structures that need to remain correctly folded and assemble in order to ensure their cellular and biological functions. The integrity of this protein balance/homeostasis, also named proteostasis, is maintained by the proteostasis network (PN). This integrated biological system, which comprises about 2000 proteins (chaperones, folding enzymes, degradation components), control and coordinate protein synthesis folding and localization, conformational maintenance, and degradation. This network is

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9

Bari, Ferrarotti, Di Silvestre, et al. "Adipose Mesenchymal Extracellular Vesicles as Alpha-1-Antitrypsin Physiological Delivery Systems for Lung Regeneration." Cells 8, no. 9 (2019): 965. http://dx.doi.org/10.3390/cells8090965.

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Accumulating evidence shows that Mesenchymal Stem/Stromal Cells (MSCs) exert their therapeutic effects by the release of secretome, made of both soluble proteins and nano/microstructured extracellular vesicles (EVs). In this work, for the first time, we proved by a proteomic investigation that adipose-derived (AD)-MSC-secretome contains alpha-1-antitrypsin (AAT), the main elastase inhibitor in the lung, 72 other proteins involved in protease/antiprotease balance, and 46 proteins involved in the response to bacteria. By secretome fractionation, we proved that AAT is present both in the soluble

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10

Chorostowska-Wynimko, Joanna. "Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency". European Respiratory Review 24, № 135 (2015): 40–45. http://dx.doi.org/10.1183/09059180.00010614.

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α1-antitrypsin deficiency (AATD) is a significantly under-recognised autosomal genetic disorder with <10% of affected individuals being clinically diagnosed. Moreover, rigorous genetic epidemiological data regarding AATD are lacking. The majority of findings come from the USA and Western Europe, and no information is available for many countries. To address this concern, an α1-antitrypsin (AAT) laboratory was set up in 2009 at the National Institute of Tuberculosis and Lung Diseases (Warsaw, Poland). In 2010, an AATD screening programme targeting patients with respiratory disorders was init

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Evers, Georg, Arik Bernard Schulze, Michael Thrull, et al. "Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience." Canadian Respiratory Journal 2020 (May 27, 2020): 1–9. http://dx.doi.org/10.1155/2020/4019608.

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Background. Alpha-1 antitrypsin deficiency (AATD) is of importance in the pathogenesis of pulmonary emphysema, chronic obstructive pulmonary diseases (COPD), and bronchiectasis. Various pulmonary disorders are a typical feature of primary immunodeficiency disease (PID). This includes recurrent pulmonary infections, immunodysregulation, and autoinflammatory diseases. As a result, incidence of acute and chronic pulmonary diseases is higher. Interestingly, pulmonary morbidity in PID and AATD share similar features. To study the coexistence of AATD in patients suffering from PID, we performed the

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Juvet, Stephen C., David Hwang, and Gregory P. Downey. "Rare Lung Diseases I – Lymphangioleiomyomatosis." Canadian Respiratory Journal 13, no. 7 (2006): 375–80. http://dx.doi.org/10.1155/2006/696573.

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The present article is the first in a series that will review selected rare lung diseases. The objective of this series is to promote a greater understanding and awareness of these unusual conditions among respirologists. Each article will begin with a case that serves as a focal point for a discussion of the pathophysiology and management of the particular condition. The first article is on lymphangioleiomyomatosis (LAM); subsequent articles will focus on pulmonary alveolar proteinosis, alpha-1-antitrypsin deficiency and primary ciliary dyskinesia.LAM is a rare, progressive and (without inter

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13

Fukuchi, Yoshin. "Workshop on the Epidemiological Survey of Chronic Obstructive Lung Diseases and Alpha-1-antitrypsin Deficiency in the Asian-Pacific Region." Respirology 6, s2 (2001): S1. http://dx.doi.org/10.1046/j.1440-1843.2001.00303.x.

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Fukuchi, Yoshinosuke. "Opening remark: Workshop on the Epidemiological Survey of Chronic Obstructive Lung Diseases and Alpha-1-antitrypsin Deficiency in the Asian-Pacific Region." Respirology 6, no. 3 (2001): 269. http://dx.doi.org/10.1046/j.1440-1843.2001.006003269.x.

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15

Crossley, Diana, James Stockley, Charlotte E. Bolton, et al. "Relationship of CT densitometry to lung physiological parameters and health status in alpha-1 antitrypsin deficiency: initial report of a centralised database of the NIHR rare diseases translational research collaborative." BMJ Open 10, no. 6 (2020): e036045. http://dx.doi.org/10.1136/bmjopen-2019-036045.

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ObjectivesTo establish a database network for the study of alpha-1 antitrypsin deficiency (AATD) and compare the results to CT lung density as the most direct measure of emphysema.DesignA central electronic database was established to permit the upload of anonymised patient data from remote sites. Prospectively collected CT data were recorded onto disc, anonymised, analysed at the coordinating centre and compared with the clinical features of the disease.SettingTertiary referral centres with expertise in the management of AATD focused on academic Biomedical Research Units and Wellcome Clinical

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Chorostowska-Wynimko, Joanna, Marion Wencker, and Ildikó Horváth. "The importance of effective registries in pulmonary diseases and how to optimize their output." Chronic Respiratory Disease 16 (January 1, 2019): 147997311988177. http://dx.doi.org/10.1177/1479973119881777.

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Randomized controlled trials (RCTs) are essential for the approval of new therapies; however, because of their design, they provide little insight concerning disease epidemiology/etiology and current clinical practice. Particularly, in lung disease, rigid inclusion/exclusion criteria can limit the generalizability of pivotal trial data. Noninterventional studies (NIS), conducted through the well-established mechanism of patient registries, are undervalued as a means to close data gaps left by RCTs by providing essential data that can guide patient care at different levels from clinical decisio

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Ryu, Changwan, Caitlin Brandsdorfer, Taylor Adams, et al. "Plasma mitochondrial DNA is associated with extrapulmonary sarcoidosis." European Respiratory Journal 54, no. 2 (2019): 1801762. http://dx.doi.org/10.1183/13993003.01762-2018.

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Sarcoidosis is an unpredictable granulomatous disease in which African Americans disproportionately experience aggressive phenotypes. Mitochondrial DNA (mtDNA) released by cells in response to various stressors contributes to tissue remodelling and inflammation. While extracellular mtDNA has emerged as a biomarker in multiple diseases, its relevance to sarcoidosis remains unknown. We aimed to define an association between extracellular mtDNA and clinical features of sarcoidosis.Extracellular mtDNA concentrations were measured using quantitative PCR for the human MT-ATP6 gene in bronchoalveolar

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Khubutiya, M. Sh, E. A. Tarabrin, E. I. Pervakova, V. P. Nikulina, and M. A. Godkov. "The dynamics of immunological parameters in early stages after bilateral lung transplantation in patients with various pulmonary pathology." Transplantologiya. The Russian Journal of Transplantation 10, no. 4 (2018): 274–83. http://dx.doi.org/10.23873/2074-0506-2018-10-4-274-283.

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Background. The diseases leading to the need for lung transplantation include chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, cystic fibrosis, alpha-1-antitrypsin deficiency, idiopathic pulmonary hypertension, histiocytosis X, and sarcoidosis. Primary lung transplant dysfunction is a frequent complication after transplantation and represents a multifactorial injury of the transplanted lung, its pathogenesis being associated with a severe hypoxemia of the lung transplant and diffused damage to the alveoli. The clinical presentation is in many ways similar to an acute respi

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Williams, David S. "Alpha-1 Antitrypsin Deficiency." Journal of Insurance Medicine 45, no. 3-4 (2015): 163–65. http://dx.doi.org/10.17849/0743-6661-45.3.163.

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Hasanah, Dian. "Behçet's Disease with Multiorgan Infection: Alternative Treatment to Systemic Immunosuppressants." Indonesian Journal of Rheumatology 12, no. 2 (2021): 285. http://dx.doi.org/10.37275/ijr.v12i2.122.

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    A B S T R A C T  Background. Behçet's disease is a rare systemic autoimmune vasculitis. The presence of infection makes it difficult to manage. Case. Ms. X, 19 years old, complained of mouth and genitalia ulcers and joints pain. She had typhoid fever two months before; and a week after recovery, she experienced reddish skin lesions on her legs. Her condition was weak and the pain visual analog score (VAS) was 9/10. Multiple oral ulcers were found in her oral cavity and vulva. Her lungs were hypersonor. There were hyperpigmented maculae in her lower extre

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Wieland, Catharina W., Britta Siegmund, Giorgio Senaldi, Michael L. Vasil, Charles A. Dinarello, and Giamila Fantuzzi. "Pulmonary Inflammation Induced by Pseudomonas aeruginosa Lipopolysaccharide, Phospholipase C, and Exotoxin A: Role of Interferon Regulatory Factor 1." Infection and Immunity 70, no. 3 (2002): 1352–58. http://dx.doi.org/10.1128/iai.70.3.1352-1358.2002.

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ABSTRACT Chronic pulmonary infection with Pseudomonas aeruginosa is common in cystic fibrosis (CF) patients. P. aeruginosa lipopolysaccharide (LPS), phosholipase C (PLC), and exotoxin A (ETA) were evaluated for their ability to induce pulmonary inflammation in mice following intranasal inoculation. Both LPS and PLC induced high levels of tumor necrosis factor alpha (TNF-α), interleukin 1β (IL-1β), IL-6, gamma interferon (IFN-γ), MIP-1α and MIP-2 in the lungs but did not affect IL-18 levels. ETA did not induce TNF-α and was a weak inducer of IL-1β, IL-6, macrophage inflammatory protein 1α (MIP-

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Panoskaltsis-Mortari, Angela, Andrew Price, Kevin Tram, et al. "Pulmonary Complications Due to Iduronidase Deficiency (Hurler Syndrome) Linked to Active Pro-Inflammatory Status." Blood 104, no. 11 (2004): 1838. http://dx.doi.org/10.1182/blood.v104.11.1838.1838.

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Abstract Mucopolysaccharidosis type IH (Hurler syndrome) is caused by alpha-L-iduronidase (IDUA) enzyme deficiency resulting in the accumulation of glycosaminoglycans (GAGs). This affects the function of many vital organs, causes mental retardation and early death. Although BMT can reduce many of these manifestations, pulmonary complications have limited the success of allogeneic BMT for Hurler patients. In our BMT population, non-infectious post-BMT lung complications were seen in 52% of MPS (n=23) vs 8% of patients with other metabolic storage diseases (n=25) (p<0.01). These complications

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Stone, Helen Marie, Ross Gareth Edgar, Richard Damian Thompson, and Robert Andrew Stockley. "Lung Transplantation in Alpha-1-Antitrypsin Deficiency." COPD: Journal of Chronic Obstructive Pulmonary Disease 13, no. 2 (2015): 146–52. http://dx.doi.org/10.3109/15412555.2015.1048850.

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Rodrigues, Joana F., Alexandra Mineiro, António Reis, et al. "Alpha-1 Antitrypsin Deficiency: Principles of Care." Acta Médica Portuguesa 33, no. 6 (2020): 433. http://dx.doi.org/10.20344/amp.12950.

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Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo major medical interventions, such as organ transplantation. Beyond managing the symptoms associated with alpha-1 antitrypsin defi

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Connolly, Brendan, Cleo Isaacs, Lei Cheng, Kirtika H. Asrani, and Romesh R. Subramanian. "SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency." Journal of Nucleic Acids 2018 (June 13, 2018): 1–7. http://dx.doi.org/10.1155/2018/8247935.

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Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due to mutations in the SERPINA1 gene encoding AAT. This disease is associated with decreased activity of AAT in the lungs and deposition of excessive defective AAT protein in the liver. Currently there is no specific treatment for liver disease associated with AAT deficiency. AAT lung disease is often treated with one of several serum protein replacement products; however, long-term studies of the effectiveness of SerpinA1 replacement therapy are not available, and it does not reduce liver damage i

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Santos, Gabriela F., Paul Ellis, Daniela Farrugia, and Alice M. Turner. "Nephrotic syndrome secondary to alpha-1 antitrypsin deficiency." BMJ Case Reports 14, no. 3 (2021): e240288. http://dx.doi.org/10.1136/bcr-2020-240288.

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We report a 64-year-old caucasian woman diagnosed with membranous nephropathy secondary to alpha-1 antitrypsin deficiency (AATD). AATD is a rare autosomal codominant genetic disorder. Its clinical manifestations are mostly observed in the lungs, with early-onset emphysema. Nephropathy due to AATD is still very rare and only a few cohort studies have been reported. It has been recognised that alpha-1 antitrypsin has a protective role in the kidneys which enhances the possibility of development of kidney failure, such as nephrotic syndrome, in cases of AATD. Further clinical investigation is nee

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Torres-Durán, María, Alberto Ruano-Ravina, Isaura Parente-Lamelas, et al. "Alpha-1 Antitrypsin Deficiency and Lung Cancer Risk." Journal of Thoracic Oncology 10, no. 9 (2015): 1279–84. http://dx.doi.org/10.1097/jto.0000000000000609.

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Stone, HM, R. Edgar, and RA Stockley. "P81 Lung Transplantation in Alpha-1-Antitrypsin Deficiency." Thorax 67, Suppl 2 (2012): A99.1—A99. http://dx.doi.org/10.1136/thoraxjnl-2012-202678.323.

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Serapinas, Danielius, Ruta Nutautiene, Ruta Pukinskaite, Daiva Bartkeviciene, Diana Barkauskiene, and Raimundas Sakalauskas. "Association of alpha-1 antitrypsin level and lung function in patients with chronic obstructive pulmonary disease." Srpski arhiv za celokupno lekarstvo 145, no. 11-12 (2017): 580–83. http://dx.doi.org/10.2298/sarh160809148s.

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Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction. The aim of our study was to evaluate possible associations of alpha-1 antitrypsin level and lung function in COPD patients with different alpha-1 antitrypsin phenotypes. Methods. Serum alpha-1 antitrypsin concentration from patients (n = 1,167) with COPD, defined according to the GOLD criteria, were analyzed by nephelometry, and alpha-1 antitrypsin phenotype was de

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De TOMMASO, Adriana Maria Alves, Cláudio Lúcio ROSSI, Cecília Amélia Fazzio ESCANHOELA, Heliane Guerra SERRA, Carmen Sílvia BERTUZZO, and Gabriel HESSEL. "Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease." Arquivos de Gastroenterologia 38, no. 1 (2001): 63–68. http://dx.doi.org/10.1590/s0004-28032001000100012.

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Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or cirrhosis. A precise diagnosis of Alpha-1-antitrypsin deficiency may be obtained by biochemical or molecular analysis. Objective - The purpose of this study was to use DNA analysis to examine the presence of an alpha-1-antitrypsin deficiency in 12 children suspected of having this deficiency and who showed laboratory and clinical ch

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Quinton, Lee J., Matthew R. Jones, Bryanne E. Robson, and Joseph P. Mizgerd. "Mechanisms of the Hepatic Acute-Phase Response during Bacterial Pneumonia." Infection and Immunity 77, no. 6 (2009): 2417–26. http://dx.doi.org/10.1128/iai.01300-08.

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ABSTRACT The acute-phase response is characterized by increased circulating levels of acute-phase proteins (APPs) generated by the liver. During bacterial pneumonia, APPs correlate with the severity of disease, serve as biomarkers, and are functionally significant. The kinetics and regulatory mechanisms of APP induction in the liver during lung infection have yet to be defined. Here we show that APP mRNA transcription is induced in the livers of mice whose lungs are infected with either Escherichia coli or Streptococcus pneumoniae, and that in both cases this induction occurs in tandem with ac

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Chiuchiolo, Maria J., and Ronald G. Crystal. "Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease." Annals of the American Thoracic Society 13, Supplement_4 (2016): S352—S369. http://dx.doi.org/10.1513/annalsats.201506-344kv.

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Chapman, Kenneth R., Joanna Chorostowska-Wynimko, A. Rembert Koczulla, Ilaria Ferrarotti, and Noel G. McElvaney. "Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications." International Journal of Chronic Obstructive Pulmonary Disease Volume 13 (January 2018): 419–32. http://dx.doi.org/10.2147/copd.s149429.

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Huang, Yuh-Chin Tony, Marion Wencker, and Bastiaan Driehuys. "Imaging in alpha-1 antitrypsin deficiency: a window into the disease." Therapeutic Advances in Chronic Disease 12_suppl (January 2021): 204062232110245. http://dx.doi.org/10.1177/20406223211024523.

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Imaging modalities such as plain chest radiograph and computed tomography (CT) are important tools in the assessment of patients with chronic obstructive pulmonary disease (COPD) of any etiology. These methods facilitate differential diagnoses and the assessment of individual lung pathologies, such as the presence of emphysema, bullae, or fibrosis. However, as emphysema is the core pathological consequence in the lungs of patients with alpha-1 antitrypsin deficiency (AATD), and because AATD is associated with the development of other lung pathologies such as bronchiectasis, there is a greater

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McGee, Dawn, Laura Schwarz, Rebecca McClure, et al. "Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?" Pulmonary Medicine 2010 (2010): 1–6. http://dx.doi.org/10.1155/2010/570679.

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Background. Alpha-1 antitrypsin deficiency (AAT) is an inherited condition that predisposes to lung and/or liver disease.Objective. The current study examined the clinical features of the PiSS genotype.Methods. Nineteen study participants (PiSS) and 29 matched control participants (PiMM) were telephone interviewed using a standardized questionnaire. Demographic features, cigarette smoking, vocation, medication history, and clinical diagnoses were compared. Statistical analysis was performed. Finally, a comprehensive literature review was performed by two investigators.Results. 12/19 (63.2%) st

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Stojcevic-Maletic, Jelena, Katarina Baculov, Vanesa Sekerus, Natasa Vucinic, Borko Milanovic, and Iva Barjaktarovic. "Detection of alpha-1 antitrypsin gene mutations by polymerase chain reaction in patients with chronic obstructive pulmonary disease." Medical review 72, no. 5-6 (2019): 148–53. http://dx.doi.org/10.2298/mpns1906148s.

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Introduction. The alpha-1 antitrypsin deficiency is the best described genetic cause of chronic obstructive pulmonary disease. The study of the alpha-1 antitrypsin deficiency, as the most important genetic risk factor for chronic obstructive pulmonary disease, is an important step in developing a strategy for the prevention and treatment of this disease. The aim of the study was detection of homozygous and heterozygous deficient gene alleles (protease inhibitor Z and protease inhibitor S) for alpha-1 antitrypsin in the group of patients with chronic obstructive pulmonary disease with the predo

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DeMeo, D. L., E. J. Campbell, M. L. Brantly, et al. "Heritability of Lung Function in Severe Alpha-1 Antitrypsin Deficiency." Human Heredity 67, no. 1 (2009): 38–45. http://dx.doi.org/10.1159/000164397.

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Curjuric, Ivan, Medea Imboden, Robert Bettschart, et al. "Alpha-1 antitrypsin deficiency: From the lung to the heart?" Atherosclerosis 270 (March 2018): 166–72. http://dx.doi.org/10.1016/j.atherosclerosis.2018.01.042.

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Lorenzetti, Victoria, Antonella Fossi, David Bennett, Paolo Cameli, Elena Bargagli, and Paola Rottoli. "Alpha-1 Antitrypsin Deficiency and Lung Transplantation: A Clinical Case." OBM Transplantation 2, no. 4 (2018): 1. http://dx.doi.org/10.21926/obm.transplant.1804033.

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Perlmutter, D. H., and J. A. Pierce. "The alpha 1-antitrypsin gene and emphysema." American Journal of Physiology-Lung Cellular and Molecular Physiology 257, no. 4 (1989): L147—L162. http://dx.doi.org/10.1152/ajplung.1989.257.4.l147.

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alpha 1-Antitrypsin (alpha 1-AT) is the major endogenous inhibitor of neutrophil elastase. Individuals with alpha 1-AT deficiency are susceptible to premature development of emphysema. Thus a greater understanding of this serine proteinase inhibitor (serpin) has been a major objective of research on the pathogenesis of emphysema. In this article, we review recent literature on the alpha 1-AT gene and its relationship to other members of the serpin supergene family, particularly as it pertains to the function of alpha 1-AT. We also discuss the current literature on biosynthesis of alpha 1-AT an

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Badawy, Mohamed Shahat, Atef Farouk El Qarn, and Hamdy Ali Mohamadeen. "Alpha 1 antitrypsin deficiency in non cystic fibrosis bronchiectasis." Egyptian Journal of Chest Diseases and Tuberculosis 62, no. 2 (2013): 311–17. http://dx.doi.org/10.1016/j.ejcdt.2013.03.001.

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Ларшина, Е. А., Н. В. Милованова, and Е. А. Каменец. "Alpha-1-antitrypsin deficiency: diagnosis and treatment (literature review)." Nauchno-prakticheskii zhurnal «Medicinskaia genetika, no. 1(222) (February 1, 2021): 12–24. http://dx.doi.org/10.25557/2073-7998.2021.01.12-24.

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Недостаточность альфа-1-антитрипсина - наследственное заболевание, характеризующееся низким уровнем белка альфа-1-антитрипсина (A1AT) в крови. В основном дефицит A1AT проявляется в виде хронической обструктивной болезни легких (ХОБЛ), эмфиземы, а также поражения печени и сосудов. А1АТ является главным ингибитором сериновых протеаз в крови человека. Недостаточность А1АТ обусловлена мутациями в гене SERPINA1. Наиболее распространенными аллельными вариантами в гене SERPINA1 являются S (p.Glu288Val) и Z (р.Glu366Lys), однако в клинической практике большинство случаев тяжелого дефицита А1АТ связаны

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Zamora, Martin R., and Ali Ataya. "Lung and liver transplantation in patients with alpha-1 antitrypsin deficiency." Therapeutic Advances in Chronic Disease 12_suppl (January 2021): 204062232110029. http://dx.doi.org/10.1177/20406223211002988.

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Alpha-1 antitrypsin (AAT) augmentation is effective in slowing the progression of emphysema due to AAT deficiency (AATD) but cannot prevent eventual progression to end-stage lung disease and complete respiratory failure, which is the leading cause of death for individuals with severe AATD. When patients develop end-stage lung disease, lung transplantation is the only treatment option available, and this can improve lung physiology and patient health status. The available data suggest that survival rates for lung transplantation are significantly higher for patients with AATD-related chronic ob

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Stiles, Katie M., Dolan Sondhi, Stephen M. Kaminsky, Bishnu P. De, Jonathan B. Rosenberg, and Ronald G. Crystal. "Intrapleural Gene Therapy for Alpha-1 Antitrypsin Deficiency-Related Lung Disease." Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation 5, no. 4 (2018): 244–57. http://dx.doi.org/10.15326/jcopdf.5.4.2017.0160.

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Bernspång, Elisabeth, Sandra Diaz, Berend Stoel, Per Wollmer, Tomas Sveger, and Eeva Piitulainen. "CT lung densitometry in young adults with alpha-1-antitrypsin deficiency." Respiratory Medicine 105, no. 1 (2011): 74–79. http://dx.doi.org/10.1016/j.rmed.2010.06.016.

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Brode, S. K., S. C. Ling, and K. R. Chapman. "Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease." Canadian Medical Association Journal 184, no. 12 (2012): 1365–71. http://dx.doi.org/10.1503/cmaj.111749.

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Mahadeva, R., S. Stewart, D. Bilton, and D. A. Lomas. "Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease." Thorax 53, no. 12 (1998): 1022–24. http://dx.doi.org/10.1136/thx.53.12.1022.

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Ehlers, Mario R. "Immune-modulating effects of alpha-1 antitrypsin." Biological Chemistry 395, no. 10 (2014): 1187–93. http://dx.doi.org/10.1515/hsz-2014-0161.

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Abstract Alpha-1 antitrypsin (AAT) is a circulating serine protease inhibitor (serpin) that inhibits neutrophil elastase in the lung, and AAT deficiency is associated with early-onset emphysema. AAT is also a liver-derived acute-phase protein that, in vitro and in vivo, reduces production of pro-inflammatory cytokines, inhibits apoptosis, blocks leukocyte degranulation and migration, and modulates local and systemic inflammatory responses. In monocytes, AAT has been shown to increase intracellular cAMP, regulate expression of CD14, and suppress NFκB nuclear translocation. These effects may be

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Corlateanu, Alexandru, Serghei Covantev, Irina Caraivanova, et al. "Alpha-1 Antitrypsin Deficiency and Chronic Obstructive Pulmonary Disease: Between Overlaps, Phenotypes and Illnesses." Current Respiratory Medicine Reviews 15, no. 2 (2019): 147–55. http://dx.doi.org/10.2174/1573398x15666190617143122.

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Alpha-1 antitrypsin deficiency (AATD) or alpha-1 antitrypsin proteinase inhibitor (α1-Pi) deficiency, is a genetic disorder leading to a higher risk of pulmonary, hepatic and other organrelated diseases. The spectrum of diseases associated with AATD is large and includes pulmonary conditions (COPD, asthma, asthma-COPD overlap syndrome, bronchiectasis, etc.) as well as extrapulmonary (liver diseases, systemic vasculitis, rheumatoid arthritis, panniculitis, multiple sclerosis, peripheral neuropathy). We present a review of AATD focusing on its connection to other conditions.

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Silverman, Edwin K., Jonathan D. Mosley, D. C. Rao, et al. "Linkage Analysis of Alpha 1-Antitrypsin Deficiency: Lessons for Complex Diseases." Human Heredity 52, no. 4 (2001): 223–32. http://dx.doi.org/10.1159/000053380.

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