Deficiency of Alpha-1-Antitrypsin
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Characteristics of Patients with Alpha-1 Antitrypsin Deficiency – Two-Year Data from the EARCO Registry
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...
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Augmentation Therapy of Bronchiectasis Due to AATD – Case Report
Alpha-1-antitrypsin deficiency (AATD) is a rare cause of bronchiectasis unrelated to cystic fibrosis....
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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…
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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…
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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…
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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…
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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…
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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…
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Current (and Future) Possibilities for Diagnosing Alpha-1-Antitrypsin Deficiency
Alpha-1-antitrypsin deficiency (AAT) is associated, among other things, with the development…
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Current Status in the Issue of Alpha-1-Antitrypsin Deficiency
Material by Italian and Swiss authors published in the European Respiratory Review details…
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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…
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Can identifying alpha-1 antitrypsin deficiency before liver transplantation extend survival?
Alpha-1 antitrypsin deficiency (AATD) can manifest (among other things) as liver cirrhosis.…
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- Autoimmune Liver Diseases in Children. Part I
- Liver disease at alpha-1-antitrypsin deficiency
- Autoimmune liver diseases in children. Part II
- Rare diseases in the year 2019 – the Czech and international context
- Quantitative CT as a New Tool for Evaluating COPD in Alpha-1 Antitrypsin Deficiency
- Current (and Future) Possibilities for Diagnosing Alpha-1-Antitrypsin Deficiency
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