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Deficiency of Alpha-1-Antitrypsin

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Characteristics of Patients with Alpha-1 Antitrypsin Deficiency – Two-Year Data from the EARCO Registry

28. 6. 2023 Source: Deficiency of Alpha-1-Antitrypsin

The international registry of individuals with alpha-1 antitrypsin deficiency (AATD) named EARCO has collected data on 1,044 patients from 15 countries, including the Czech Republic, over its first 2 years of existence. In December 2022, the characteristics of patients enrolled from February 2020 to May 2022 were published. They provide information on the prevalence of AATD genotypes, their clinical phenotypes, factors associated with worsening lung function, and the impact of augmentation therapy.

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To what extent does the delay between symptom onset and diagnosis of AATD affect patient survival?

The risk of chronic obstructive pulmonary disease (COPD) is increased, among other things, by a deficiency...
26. 4. 2023 Source: Deficiency of Alpha-1-Antitrypsin
pacientka

Augmentation Therapy of Bronchiectasis Due to AATD – Case Report

Alpha-1-antitrypsin deficiency (AATD) is a rare cause of bronchiectasis unrelated to cystic fibrosis....
26. 4. 2023 Source: Deficiency of Alpha-1-Antitrypsin

Articles on this topic
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Estimated Worldwide Prevalence of Population with AAT Deficiency with MZ Alleles

Alpha-1-antitrypsin deficiency (AATD) with the MZ genotype was until recently associated with…
14. 11. 2022 Source: Deficiency of Alpha-1-Antitrypsin
hypertenze a plíce

Repeated Episodes of Respiratory Failure Due to Undiagnosed AAT Deficiency – Case Report

The case report from authors in Naples shows that alpha-1-antitrypsin deficiency (AATD) should…
14. 11. 2022 Source: Deficiency of Alpha-1-Antitrypsin
ultrazvuk játra jater

Specific treatment of pulmonary involvement in patients with AAT deficiency − why, how, and for whom?

For patients with emphysema and decreased lung function due to alpha-1-antitrypsin deficiency…
1. 11. 2022 Source: Deficiency of Alpha-1-Antitrypsin
plíce léčba lékař

Diagnosis of AAT Deficiency According to Italian Recommendations and a Clear Algorithm for Practice

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that primarily affects the lungs…
1. 11. 2022 Source: Deficiency of Alpha-1-Antitrypsin
Muž_dýchání_lékařka

Interactive Case Study: AATD – Alpha-1-Antitrypsin Deficiency

We present a case study of a man who was 41 years old at the time of his first contact with a…
19. 4. 2022 Source: Deficiency of Alpha-1-Antitrypsin
notebook studie výzkum medicína

How and What the National AATD Register Benefits Experts and Patients

Given that alpha-1-antitrypsin deficiency (AATD) is still not receiving enough attention, it…
25. 2. 2022 Source: Deficiency of Alpha-1-Antitrypsin
diagnoza

Current (and Future) Possibilities for Diagnosing Alpha-1-Antitrypsin Deficiency

Alpha-1-antitrypsin deficiency (AAT) is associated, among other things, with the development…
25. 2. 2022 Source: Deficiency of Alpha-1-Antitrypsin
laborator vedci vyzkum

Current Status in the Issue of Alpha-1-Antitrypsin Deficiency

Material by Italian and Swiss authors published in the European Respiratory Review details…
12. 1. 2022 Source: Deficiency of Alpha-1-Antitrypsin
plice lekar 2

Treatment of COPD in Individuals with Alpha-1 Antitrypsin Deficiency

A mutation in the gene for alpha-1 antitrypsin (AAT), leading to its deficiency (AATD), causes…
6. 12. 2021 Source: Deficiency of Alpha-1-Antitrypsin

Can identifying alpha-1 antitrypsin deficiency before liver transplantation extend survival?

Alpha-1 antitrypsin deficiency (AATD) can manifest (among other things) as liver cirrhosis.…
1. 7. 2021 Source: Deficiency of Alpha-1-Antitrypsin

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