Český registr deficitu alfa-1 antitrypsinu (AATD) shromažďuje vybraná klinická data jedinců s těžkými genotypy. Současná studie uvádí analýzu dopadu kouření jako rizikového faktoru k vývoji CHOPN u jedinců s těžkým AATD. Výsledky studie ukazují, že těžký AATD není nutně spojen s vývojem CHOPN, přibližně čtvrtina jedinců nemá při vstupu do registru žádné zjevné postižení respiračního systému. A pokud dojde k postižení respiračního systému, jeho klinická prezentace je u celoživotních nekuřáků ve srovnání s aktivními kuřáky opožděna v průměru o 20 let. Nekuřáctví je tudíž nejdůležitějším opatřením v prevenci i léčbě AATD.
- MeSH
- alfa-1-antitrypsin genetika MeSH
- deficit alfa1-antitrypsinu * diagnóza epidemiologie genetika MeSH
- fenotyp MeSH
- lidé MeSH
- registrace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- dopisy MeSH
- práce podpořená grantem MeSH
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history. METHODS: The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 μM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes or homozygotes of other rare deficient variants. We describe the characteristics of the individuals included from February 2020 to May 2022. RESULTS: A total of 1044 individuals from 15 countries were analysed. The most frequent genotype was PI*ZZ (60.2%), followed by PI*SZ (29.2%). Among PI*ZZ patients, emphysema was the most frequent lung disease (57.2%) followed by COPD (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) and KCO(%). Those with impairment in FEV1(%) alone had more frequently bronchiectasis and asthma and those with impairment in KCO(%) alone had more frequent emphysema and liver disease. Multivariate analysis showed that advanced age, male sex, exacerbations, increased blood platelets and neutrophils, augmentation and lower AAT serum levels were associated with worse FEV1(%). CONCLUSIONS: EARCO has recruited > 1000 individuals with AATD from 15 countries in its first 2 years. Baseline cross sectional data provide relevant information about the clinical phenotypes of the disease, the patterns of functional impairment and factors associated with poor lung function. Trial registration www. CLINICALTRIALS: gov (ID: NCT04180319).
- MeSH
- alfa-1-antitrypsin genetika MeSH
- bronchiektazie * diagnóza epidemiologie MeSH
- chronická obstrukční plicní nemoc * genetika MeSH
- deficit alfa1-antitrypsinu * diagnóza epidemiologie genetika MeSH
- genotyp MeSH
- lidé MeSH
- plicní emfyzém * diagnóza epidemiologie komplikace MeSH
- prospektivní studie MeSH
- průřezové studie MeSH
- registrace MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- Klíčová slova
- augmentační terapie,
- MeSH
- alfa-1-antitrypsin analýza genetika MeSH
- chronická obstrukční plicní nemoc etiologie terapie MeSH
- deficit alfa1-antitrypsinu * genetika patologie MeSH
- enzymová substituční terapie * MeSH
- klinická studie jako téma MeSH
- kouření škodlivé účinky MeSH
- lidé MeSH
- počítačová rentgenová tomografie MeSH
- výběr pacientů MeSH
- Check Tag
- lidé MeSH
Exercise tolerance in patients with idiopathic pulmonary fibrosis IPF is mainly limited by mechanical constrain of ventilation and high physiologic dead space. Oxygen enriched gas inhalation seems to increase ventilatory efficiency by reduction of dead space to tidal volume ratio (VD/VT) which probably mirrors improved pulmonary capillary flow and leads to longer physical tolerance at lower level of minute ventilation. The effect is noticeable at FIO2 that can be delivered in rehabilitation purposes or daily living activities.
- MeSH
- dechový objem MeSH
- idiopatická plicní fibróza * MeSH
- kyslík MeSH
- lidé MeSH
- mrtvý prostor dýchacích cest fyziologie MeSH
- plíce MeSH
- tolerance zátěže * MeSH
- zátěžový test MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Chronická obstrukční plicní nemoc (CHOPN) je závažné onemocnění významně zkracující svým nositelům život. Její diagnostika a detekce komorbidit je poměrně složitá, nicméně zásadně důležitá pro volbu správné a cílené léčby. Ta sice není schopna zastavit progresi onemocnění, ale může významně zlepšit životní vyhlídky. Praktická medicína má zejména v diferenciální diagnostice a nefarmakologických intervencích pozoruhodné rezervy.
Chronic obstructive pulmonary disease (COPD) is a serious illness which significantly shortens longevity. Establishing the diagnosis and detection of comorbidities is rather difficult but extremely important for choosing the right and specific therapy. The treatment of COPD is not capable to stop its progression but may improve outcome. There are remarkable gaps in clinical practice, namely in differential diagnosis and non-pharmacological management of the disease.
- MeSH
- bronchodilatancia terapeutické užití MeSH
- bronchoskopie metody MeSH
- chronická obstrukční plicní nemoc * diagnóza terapie MeSH
- diferenciální diagnóza MeSH
- glukokortikoidy terapeutické užití MeSH
- kouření škodlivé účinky MeSH
- lidé MeSH
- odvykání kouření MeSH
- oxygenoterapie MeSH
- respirační funkční testy MeSH
- terapie cvičením MeSH
- umělé dýchání MeSH
- vakcinace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
Due to its effectivity in assessing functional capacity and adding prognostic information to the staging of chronic obstructive pulmonary disease (COPD) patients, the 6-min walk test (6MWT) is extensively used in clinical evaluation. Currently, there is little information about the physiological response this test elicits in patients, especially when compared to cardiopulmonary exercise test (CPET). The aim of the study was to compare ventilatory and metabolic responses between these tests commonly used for the assessment of clinical outcome. A group of 20 patients with moderate to very severe COPD were tested for their pulmonary function (flow-volume curve, static lung volumes), occlusion mouth pressures and breath-by-breath measurement of flow, volumes, and oxygen (O2) and carbon dioxide (CO2) concentration during the 6MWT and CPET. All parameters measured during both exercise tests were assessed over the throughout of the tests and compared between each other at specified time points. Serially measured inspiratory vital capacity (IVC) decreased more rapidly and extensively during the walk-test (p < 0,0001). This was accompanied by a limited increase in tidal volume (VT) and minute ventilation (VE), which were significantly lower in the course of the 6MWT (p = 0,0003 and p = 0,0097, respectively). We also noticed a significant decrease in hemoglobin oxygen saturation (SpO2) during the 6MWT which was correlated to percent decrease in IVC (p = 0,0206). Over the course of the 6MWT, oxygen consumption (VO2) and VT reached plateau within 2 min, while carbon dioxide production (VCO2) and VE within 3 min. During CPET, VO2, VCO2 and VE rose continuously, while VT reached plateau within 4 min. The 6MWT seems to be a rather endurance-based test associated with more pronounced dynamic lung hyperinflation and mechanical constraint of ventilation in comparison to cycling.
- Publikační typ
- časopisecké články MeSH
α1-antitrypsin deficiency (AATD) is a rare and under-recognised genetic condition. Owing to its low prevalence, international initiatives are key for conducting high-quality research in the field. From July 2018 to December 2019, the European Alpha-1 Research Collaboration (EARCO) developed and conducted two surveys, one for healthcare providers and one for patients and caregivers, aiming to identify research priorities and barriers in access to treatment for AATD. A survey on 164 research questions was electronically sent to 230 AATD experts in Europe, and 94 completed surveys from 24 countries were received. The top research areas identified by healthcare providers were causes of variable progression and poor outcomes, improvement in diagnosis, initiation and optimal dosing of augmentation therapy and effectiveness of self-management interventions. During the same period, 438 surveys were completed by patients and caregivers from 26 countries. The top research areas identified were improving knowledge about AATD, in particular among general practitioners, access to AATD specialised centres and access to reliable, easy to understand information about living with AATD. Regarding barriers to treatment, participants from countries where augmentation therapy was reimbursed prioritised improving knowledge in AATD, while respondents in non-reimbursed countries regarded access to AATD augmentation therapy and to specialised centres as the most relevant. The main research and management priorities identified by healthcare providers and patients included understanding the natural history of AATD, improving information to physicians, improving access to specialised reference centres, personalising treatment and having equal opportunities for access to existing therapies.
- Publikační typ
- časopisecké články MeSH
