Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

Eduardo Laviña,1,2 Sara Lumbreras,3 Lara Bravo,4 Joan B Soriano,5 José Luis Izquierdo,1,6 Jose Miguel Rodríguez4,6 1Servicio de Neumología, Hospital Universitario de Guadalajara, Guadalajara, Spain; 2Escuela de Doctorado, Programa Doctoral en Ciencias de la Salud, Universidad de Alcalá, Alcalá de He...

Full description

Bibliographic Details
Main Authors:	Laviña E, Lumbreras S, Bravo L, Soriano JB, Izquierdo JL, Rodríguez JM
Format:	Article
Language:	English
Published:	Dove Medical Press 2024-02-01
Series:	International Journal of COPD
Subjects:	emphysema alpha-1 antitrypsin deficiency variants
Online Access:	https://www.dovepress.com/alpha-1-antitrypsin-gene-variants-in-patients-without-severe-deficienc-peer-reviewed-fulltext-article-COPD

Similar Items

Alpha-1-Antitrypsin Deficiency in Children: Case Series
by: Svetlana I. Melnik, et al.
Published: (2016-12-01)

Case report of a novel alpha1-antitrypsin null variant in Türkiye: Q0RİZE
by: Dilek Karadoğan, et al.
Published: (2024-02-01)

Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli
by: Marco Mosella, et al.
Published: (2018-01-01)

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications
by: Chapman KR, et al.
Published: (2018-01-01)

Assessing the efficacy of Alpha1-Proteinase inhibitor (human) augmentation therapy for Alpha1-Antitrypsin deficiency – Related emphysema: Challenges and opportunities
by: L. Ross Pierce
Published: (2024-06-01)

The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO
by: Robert A. Stockley, et al.
Published: (2023-08-01)

Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review
by: Edgar RG, et al.
Published: (2017-05-01)

Alpha-1 antitrypsin: now available, but do we need it?
by: Swiss Medical Weekly
Published: (2008-04-01)

Acute Disseminated Panniculitis Associated with Alpha-1 Antitrypsin Deficiency
by: António Guilherme Murinello, et al.
Published: (2022-10-01)

Severe Nocardia pneumonia in an immunocompromised patient with alpha‐1 antitrypsin deficiency
by: Daryl E. C. Y. Chan, et al.
Published: (2020-11-01)

Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease
by: K.A. Serban, et al.
Published: (2022-10-01)

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency
by: Bebiana Conde, et al.
Published: (2022-07-01)

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review
by: Ilaria Ferrarotti, et al.
Published: (2024-02-01)

No gender-specific differences in comorbidities in patients with chronic obstructive pulmonary disease due to alpha-1 antitrypsin deficiency
by: Josef Yayan, et al.
Published: (2023-11-01)

Association between circulating alpha-1 antitrypsin polymers and lung and liver disease
by: Alexa Núñez, et al.
Published: (2021-09-01)

The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil
by: Manuela Brisot Felisbino, et al.

Cardiovascular risk in patients with alpha-1-antitrypsin deficiency
by: Sebastian Fähndrich, et al.
Published: (2017-09-01)

Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients
by: Mila Ljujic, et al.
Published: (2010-01-01)

Short-term variability of biomarkers of proteinase activity in patients with emphysema associated with type Z alpha-1-antitrypsin deficiency
by: Nieuwenhuizen Willem, et al.
Published: (2005-05-01)

Individualized lung function trends in alpha-1-antitrypsin deficiency: a need for patience in order to provide patient centered management?
by: Stockley RA, et al.
Published: (2016-08-01)

Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence
by: Franck F. Rahaghi, et al.
Published: (2017-05-01)

Alpha1-antitrypsin deficiency and asthma
by: Emanuele Stirpe, et al.
Published: (2022-02-01)

Cellular Consequences of Z Alpha-1 Antitrypsin Accumulation and Prospects for Therapy
by: Sam Alam, et al.
Published: (2013-12-01)

Emphysema and COPD in a young woman
by: Kevin Conroy, et al.
Published: (2014-01-01)

PROINFLAMMATORY CYTOKINE PROFILE IN PATIENTS WITH DIFFERENT ALPHA-1-ANTITRYPSIN PHENOTYPES
by: M. Yu. Pervakova, et al.
Published: (2016-12-01)

Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency
by: Paulo Henrique Ramos Feitosa, et al.
Published: (2024-12-01)

Clinical utility of alpha-1 proteinase inhibitor in the management of adult patients with severe alpha-1 antitrypsin deficiency: a review of the current literature
by: Parr DG, et al.
Published: (2017-07-01)

The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis
by: Dawid Kościołek, et al.
Published: (2024-02-01)

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry
by: Tobias Meischl, et al.
Published: (2023-01-01)

Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
by: Marina Aiello, et al.
Published: (2022-05-01)

The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis
by: Veith M, et al.
Published: (2020-11-01)

Lung transplant outcomes for recipients with alpha-1 antitrypsin deficiency, by use of alpha-1 antitrypsin augmentation therapy
by: Atharv V. Oak, MEng, et al.
Published: (2025-02-01)

Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia
by: Abraham Alí-Munive, et al.
Published: (2023-05-01)

Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center
by: Friedrich Kueppers
Published: (2021-01-01)

Alpha 1 Antitrypsin Therapy in Patients with Alpha 1 Antitrypsin Deficiency: Perspectives from a Registry Study and Practical Considerations for Self-Administration During the COVID-19 Pandemic
by: Herth FJF, et al.
Published: (2021-11-01)

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites
by: I. Suárez-Lorenzo, et al.
Published: (2018-11-01)

Augmentation therapy with human alpha-1-proteinase inhibitor reduces exacerbations in patient with bronchiectasis and alpha-1-antitrypsin deficiency
by: Emanuel Buck, et al.
Published: (2022-01-01)

In Vivo Electroporation-Mediated, Intrahepatic Alpha1 Antitrypsin Gene Transfer Reduces Pulmonary Emphysema in Pallid Mice
by: Marco A. Sutter, et al.
Published: (2020-08-01)

Prevalence of alpha-1 antitrypsin deficiency in patients with acute exacerbation of chronic obstructive pulmonary disease: Insights from a prospective study
by: AK Rayees, et al.
Published: (2024-06-01)

Detection of alpha-1 antitrypsin deficiency: the past, present and future
by: Mark Brantly, et al.
Published: (2020-04-01)