Characteristics of bronchiectasis in patients with different genotypes of severe α1-antitrypsin deficiency from the EARCO registry

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F26%3A10001452" target="_blank" >RIV/00064190:_____/26:10001452 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1183/23120541.00491-2025" target="_blank" >https://doi.org/10.1183/23120541.00491-2025</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1183/23120541.00491-2025" target="_blank" >10.1183/23120541.00491-2025</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Characteristics of bronchiectasis in patients with different genotypes of severe α1-antitrypsin deficiency from the EARCO registry

Popis výsledku v původním jazyce

Background alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by mutations in the SERPINA1 gene and associated with reduced levels of alpha-1 antitrypsin (AAT). It predisposes individuals to pulmonary diseases, including bronchiectasis, through protease-antiprotease imbalance and immune dysregulation. While the Pi*ZZ genotype has been extensively studied, the prevalence and characteristics of bronchiectasis in other genotypes remain unclear. Methods This cross-sectional study analysed data from the European alpha-1 Research Collaboration (EARCO) registry, focusing on individuals with bronchiectasis on computed tomography (CT). Participants were stratified by AATD genotypes (Pi*ZZ, Pi*SZ, Pi*SS and rare variants) and data were compared. Disease severity was evaluated using FACED (forced expiratory volume in 1 s (FEV1), age, chronic colonisation, extension and dyspnoea) score and bronchiectasis severity index (BSI) scores. Results 349 patients had bronchiectasis on a CT scan, of whom 70.5% had Pi*ZZ, 18.6% had Pi*SZ, 4.3% had Pi*SS and 6.6% had rare variants. Lower lobe involvement was predominant across genotypes, whereas Pi*SS exhibited distinct upper lobe patterns and Pi*SZ showed more frequent middle lobe involvement. People with rare genotypes and Pi*ZZ had worse lung function (FEV1 % of 65.3% and 71.4%, respectively) and higher disease severity scores. Emphysema co-occurrence was most frequent in Pi*ZZ (60.6%). No significant differences were observed in sputum microbiology or systemic inflammatory markers, except for lower platelet counts in Pi*ZZ subjects. Conclusion Bronchiectasis in AATD is not limited to the Pi*ZZ genotype, with significant phenotypic variability across genotypes. Lower lobe involvement and mild disease predominate; however, severe forms are more frequent in rare genotypes and Pi*ZZ. These findings underscore the importance of systematic screening and genotype-specific management to improve patient outcomes.

Název v anglickém jazyce

Characteristics of bronchiectasis in patients with different genotypes of severe α1-antitrypsin deficiency from the EARCO registry

Popis výsledku anglicky

Background alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by mutations in the SERPINA1 gene and associated with reduced levels of alpha-1 antitrypsin (AAT). It predisposes individuals to pulmonary diseases, including bronchiectasis, through protease-antiprotease imbalance and immune dysregulation. While the Pi*ZZ genotype has been extensively studied, the prevalence and characteristics of bronchiectasis in other genotypes remain unclear. Methods This cross-sectional study analysed data from the European alpha-1 Research Collaboration (EARCO) registry, focusing on individuals with bronchiectasis on computed tomography (CT). Participants were stratified by AATD genotypes (Pi*ZZ, Pi*SZ, Pi*SS and rare variants) and data were compared. Disease severity was evaluated using FACED (forced expiratory volume in 1 s (FEV1), age, chronic colonisation, extension and dyspnoea) score and bronchiectasis severity index (BSI) scores. Results 349 patients had bronchiectasis on a CT scan, of whom 70.5% had Pi*ZZ, 18.6% had Pi*SZ, 4.3% had Pi*SS and 6.6% had rare variants. Lower lobe involvement was predominant across genotypes, whereas Pi*SS exhibited distinct upper lobe patterns and Pi*SZ showed more frequent middle lobe involvement. People with rare genotypes and Pi*ZZ had worse lung function (FEV1 % of 65.3% and 71.4%, respectively) and higher disease severity scores. Emphysema co-occurrence was most frequent in Pi*ZZ (60.6%). No significant differences were observed in sputum microbiology or systemic inflammatory markers, except for lower platelet counts in Pi*ZZ subjects. Conclusion Bronchiectasis in AATD is not limited to the Pi*ZZ genotype, with significant phenotypic variability across genotypes. Lower lobe involvement and mild disease predominate; however, severe forms are more frequent in rare genotypes and Pi*ZZ. These findings underscore the importance of systematic screening and genotype-specific management to improve patient outcomes.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30203 - Respiratory systems

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2026

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

ERJ open research

ISSN

—

e-ISSN

2312-0541

Svazek periodika

12

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

11

Strana od-do

nestránkováno

Kód UT WoS článku

001691739800001

EID výsledku v databázi Scopus

2-s2.0-105030565886