scholarly journals Air Trapping Is Associated with Heterozygosity for Alpha-1 Antitrypsin Mutations in Patients with Asthma

Respiration ◽  
2021 ◽  
pp. 1-10
Author(s):  
Marina Aiello ◽  
Marianna Ghirardini ◽  
Laura Marchi ◽  
Annalisa Frizzelli ◽  
Roberta Pisi ◽  
...  
Keyword(s):  
Lung Function ◽  
Serum Concentration ◽  
Forced Expiratory Volume ◽  
Small Airway ◽  
University Hospital ◽  
Air Trapping ◽  
Asthmatic Patients ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Few Data

<b><i>Background:</i></b> Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder involving lungs, characterized by low serum concentration of the protein alpha-1 antitrypsin (AAT) also called proteinase inhibitor (PI). Asthma is common in AATD patients, but there are only few data on respiratory function in asthmatic patients with AATD. <b><i>Objectives:</i></b> The aim of the study was to evaluate lung function in asthmatic outpatients with mutation in the <i>SERPINA1</i> gene coding for AAT versus asthmatic subjects without mutation. <b><i>Methods:</i></b> We performed the quantitative analysis of the serum concentration of AAT in 600 outpatients affected by mild to moderate asthma from the University Hospital of Parma, Italy. Fifty-seven of them underwent the genetic analysis subsequently; they were subdivided into mutated and non-mutated subjects. All the mutated patients had a heterozygous genotype, except 1 (PI*SS). We assessed the lung function through a flow-sensing spirometer and the small airway parameters through an impulse oscillometry system. <b><i>Results:</i></b> The values of forced vital capacity (% predicted) and those of the residual volume to total lung capacity ratio (%) were, respectively, lower and higher in patients mutated versus patients without mutation, showing a significantly greater air trapping (<i>p =</i> 0.014 and <i>p =</i> 0.017, respectively). Moreover, patients with mutation in comparison to patients without mutation showed lower forced expiratory volume in 3 s (% predicted) and forced expiratory volume in 6 s (L) spirometric values, reflecting a smaller airways contribution. <b><i>Conclusions:</i></b> In asthmatic patients, heterozygosity for AAT with PI*MZ and PI*MS genotypes was associated with small airway dysfunction and with lung air trapping.

Air trapping is associated with heterozygosity for Alpha-1  Antitrypsin mutations in patients with asthma

2020 ◽  
Author(s):  
Marina Aiello ◽  
Ghirardini Marianna ◽  
Pisi Roberta ◽  
Ferrarotti Ilaria ◽  
Bertorelli Giuseppina ◽  
...  
Keyword(s):  
Lung Function ◽  
Serum Concentration ◽  
Genetic Disorder ◽  
University Hospital ◽  
Small Airways ◽  
Air Trapping ◽  
Asthmatic Patients ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Few Data

Abstract Background: Alpha-1 Antitrypsin Deficiency (AATD) is a hereditary genetic disorder involving lungs in adults, characterized by low serum concentration of the protein alpha-1 antitrypsin (AAT). Several reports indicate that asthma is common in AATD patients, but there are only few data on respiratory function in asthmatic patients with AATD. The aim of the study is to evaluate lung function in asthmatic outpatients with AATD vs. asthmatic subjects without AATD. Methods: We performed the quantitative analysis of the serum concentration of AAT in 600 outpatients affected by mild to moderate asthma from the University Hospital of Parma, Italy. Fifty-seven of them underwent the genetic analysis subsequently, they were subdivided into AATD and non-AATD subjects. All the AATD patients had a heterozygous genotype, except one (PI*SS). We assessed the lung function through a flow-sensing spirometer and the small airways parameters through an impulse oscillometry system.Results: The values of FVC (% predicted) and of the RV/TLC (%) ratio were respectively lower and higher in patients with AATD vs. patients without AATD, showing a significantly greater air trapping (p = 0.014 and p = 0.017 respectively). Moreover, patients with AATD in comparison to patients without AATD showed lower FEV3 (% predicted) and FEV6 (L) spirometric values, reflecting a smaller airways contribution.Conclusions: AATD in asthmatic heterozygote patients with PI*MZ and PI*MS genotypes was associated with small airways dysfunction and with lung air trapping.

scholarly journals Small airways dysfunction is associated to Alpha-1 Antitrypsin Deficiency in patients with asthma

2019 ◽  
Author(s):  
Marina Aiello ◽  
Marianna Ghirardini ◽  
Roberta Pisi ◽  
Ilaria Ferrarotti ◽  
Giuseppina Bertorelli ◽  
...  
Keyword(s):  
Lung Function ◽  
Genetic Disorder ◽  
University Hospital ◽  
Small Airways ◽  
Air Trapping ◽  
Asthmatic Patients ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Few Data

Abstract Background Alpha-1 Antitrypsin Deficiency (AATD) is a hereditary genetic disorder involving lungs in adults, characterized by low serum concentration of the protein alpha-1 antitrypsin (AAT). Several reports indicate that asthma is common in AATD patients, but there are only few data on respiratory function in asthmatic patients with intermediate AATD. The aim of the study is to evaluate lung function in asthmatic outpatients with AATD vs. asthmatic subjects without AATD.Methods We enrolled 57 outpatients affected by mild to moderate asthma from the University Hospital of Parma, Italy. We submitted to genetic analysis the asthmatic outpatients with a serum AAT concentration <113 mg/dL and those with relatives affected by AATD. Subsequently, the study population was split into AATD and not AATD subjects. We assessed lung function through a flow-sensing spirometer and the small airways parameters through an impulse oscillometry system.Results The values of FVC (% predicted) and of the RV/TLC (%) ratio were respectively lower and higher in patients with AATD vs. patients without AATD, showing a significantly greater air trapping (p = 0.014 and p = 0.017 respectively). Moreover, patients with AATD in comparison to patients without AATD showed lower FEV3 (% predicted) and FEV6 (L) values. A significant and positive correlation (p=0.041; r=0.894) occurred between the RV/TLC ratio and the years of smoking in the group of asthmatic patients with AATD.Conclusions AATD predisposes asthmatic heterozygote patients with PI*MZ, PI*MS and intermediate levels of AAT to small airways dysfunction and to increased values of pulmonary air trapping.

scholarly journals Lung function and CT lung densitometry in 37- to 39-year-old individuals with alpha-1-antitrypsin deficiency

2018 ◽  
Vol Volume 13 ◽  
pp. 3689-3698 ◽  
Author(s):  
Behrouz Mostafavi ◽  
Sandra Diaz ◽  
Eeva Piitulainen ◽  
Berend Stoel ◽  
Per Wollmer ◽  
...  
Keyword(s):  
Lung Function ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Lung Densitometry

scholarly journals Relationship of CT densitometry to lung physiological parameters and health status in alpha-1 antitrypsin deficiency: initial report of a centralised database of the NIHR rare diseases translational research collaborative

BMJ Open ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. e036045
Author(s):  
Diana Crossley ◽  
James Stockley ◽  
Charlotte E Bolton ◽  
Nicholas S Hopkinson ◽  
Ravi Mahadeva ◽  
...  
Keyword(s):  
Health Status ◽  
Lung Function ◽  
Lung Disease ◽  
Clinical Features ◽  
Obstructive Lung Disease ◽  
Chronic Obstructive Lung Disease ◽  
Chronic Obstructive ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

ObjectivesTo establish a database network for the study of alpha-1 antitrypsin deficiency (AATD) and compare the results to CT lung density as the most direct measure of emphysema.DesignA central electronic database was established to permit the upload of anonymised patient data from remote sites. Prospectively collected CT data were recorded onto disc, anonymised, analysed at the coordinating centre and compared with the clinical features of the disease.SettingTertiary referral centres with expertise in the management of AATD focused on academic Biomedical Research Units and Wellcome Clinical Research Facilities.ParticipantsData were collected from 187 patients over 1 year from eight UK academic sites. This included patient demographics, postbronchodilator physiology, health status and CT. Analysis was undertaken at the coordinating centre in Birmingham.ResultsPatient recruitment in the 12 months reached 94% of target (set at 200) covering the whole spectrum of the disease from those with normal lung function to very severe chronic obstructive lung disease. CT scan suitable for analysis was available from 147 (79%) of the patients. CT density, analysed as the threshold for the lowest 15% of lung voxels, showed statistically significant relationships with the objective physiological parameters of lung function as determined by spirometric Global Initiative for Chronic Obstructive Lung Disease (GOLD) severity staging (p<0.001) and carbon monoxide gas transfer (p<0.01). Density also correlated with subjective measures of quality of life (p=0.02).ConclusionsEstablishment of the network for data collection and its transfer was highly successful facilitating future collaboration for the study of this rare disease and its management. CT densitometry correlated well with the objective clinical features of the disease supporting its role as the specific marker of the associated emphysema and its severity. Correlations with subjective measures of health, however, were generally weak indicating other factors play a role.

Small airway dysfunction by impulse oscillometry in asthmatic patients with normal forced expiratory volume in the 1st second values

2013 ◽  
Vol 34 (1) ◽  
pp. 14-20 ◽  
Author(s):  
Roberta Pisi ◽  
Panagiota Tzani ◽  
Marina Aiello ◽  
Enrico Martinelli ◽  
Emilio Marangio ◽  
...  
Keyword(s):  
Forced Expiratory Volume ◽  
Small Airway ◽  
Impulse Oscillometry ◽  
Asthmatic Patients

scholarly journals Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT)

2018 ◽  
Vol Volume 13 ◽  
pp. 1001-1007 ◽  
Author(s):  
Cristina Esquinas ◽  
Sonia Serreri ◽  
Miriam Barrecheguren ◽  
Esther Rodríguez ◽  
Alexa Nuñez ◽  
...  
Keyword(s):  
Lung Function ◽  
Long Term Evolution ◽  
Term Evolution ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

scholarly journals Lung function decline in asthma patients with elevated bronchial CD8, CD4 and CD3 cells

2016 ◽  
Vol 48 (2) ◽  
pp. 393-402 ◽  
Author(s):  
Irene den Otter ◽  
Luuk N.A. Willems ◽  
Annemarie van Schadewijk ◽  
Simone van Wijngaarden ◽  
Kirsten Janssen ◽  
...  
Keyword(s):  
Lung Function ◽  
Granzyme B ◽  
Eosinophil Cationic Protein ◽  
Risk Groups ◽  
Forced Expiratory Volume ◽  
Lung Function Decline ◽  
Cationic Protein ◽  
Asthmatic Patients ◽  
Asthma Patients

Which inflammatory markers in the bronchial mucosa of asthma patients are associated with decline of lung function during 14 years of prospective follow-up?To address this question, 19 mild-to-moderate, atopic asthmatic patients underwent spirometry and bronchoscopy at baseline and after 14 years of follow-up (t=14). Baseline bronchial biopsies were analysed for reticular layer thickness, eosinophil cationic protein (EG2), mast cell tryptase (AA1), CD3, CD4 and CD8. Follow-up biopsies were stained for EG2, AA1, neutrophil elastase, CD3, CD4, CD8, CD20, granzyme B, CD68, DC-SIGN, Ki67 and mucins.Decline in forced expiratory volume in 1 s (FEV1) % predicted was highest in patients with high CD8 (p=0.01, both pre- and post-bronchodilator) or high CD4 counts at baseline (p=0.04 pre-bronchodilator, p=0.03 post-bronchodilator). Patients with high CD8, CD3 or granzyme B counts at t=14 also exhibited faster decline in FEV1 (p=0.00 CD8 pre-bronchodilator, p=0.04 CD8 post-bronchodilator, p=0.01 granzyme B pre-bronchodilator, and p<0.01 CD3 pre-bronchodilator).Long-term lung function decline in asthma is associated with elevation of bronchial CD8 and CD4 at baseline, and CD8, CD3 and granzyme B at follow-up. This suggests that high-risk groups can be identified on the basis of inflammatory phenotypes.

scholarly journals Relationship between CT air trapping criteria and lung function in small airway impairment quantification

2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Sébastien Bommart ◽  
Grégory Marin ◽  
Arnaud Bourdin ◽  
Nicolas Molinari ◽  
François Klein ◽  
...  
Keyword(s):  
Lung Function ◽  
Small Airway ◽  
Air Trapping

scholarly journals Kraujo krešumo sistemos pokyčiai sergant paveldimąja plaučių emfizema

2005 ◽  
Vol 3 (1) ◽  
pp. 0-0
Author(s):  
Vytis Bajoriūnas ◽  
Romaldas Rubikas ◽  
Paulius Gradauskas ◽  
Diana Samiatina ◽  
Algirdas Vilčinskas ◽  
...  
Keyword(s):  
Pulmonary Emphysema ◽  
Spontaneous Pneumothorax ◽  
Blood Clotting ◽  
Pleural Cavity ◽  
University Hospital ◽  
The Family ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Medical University

Vytis Bajoriūnas, Romaldas Rubikas, Paulius Gradauskas, Diana Samiatina, Algirdas Vilčinskas, Leonas JasulaitisKauno medicinos universitetoTorakalinės chirurgijos klinika,Eivenių g. 2, LT-50009 KaunasEl paštas: [email protected], [email protected] Įvadas Pateikiami penkių gydytų pacientų ligos istorijų duomenys, aprašoma kraujo krešumo sistemos patologija sergant paveldima plaučių emfizema. Ligoniai ir metodai 2000–2003 metais Torakalinės chirurgijos klinikoje gydyti penki vienos giminės nariai, sirgę spontaninio pneumotorakso komplikuota plaučių emfizema. Įgimta plaučių emfizema šeimoje sirgo ir šiuo metu serga 12 žmonių. Visi ligoniai buvo operuoti. Atliktos torakotomijos, rezekuota pažeista plaučio dalis, atlikta dalinė arba visiškoji pleurektomija, drenuota pleuros ertmė. Rezultatai Pooperaciniu laikotarpiu visiems ligoniams padidėjo kraujavimas į pleuros ertmę. Netekto kraujo tūris buvo papildomas hemotransfuzija, šviežiai šaldytos plazmos infuzijomis. Dėl kraujavimo į pleuros ertmę ar susidariusio hemotorakso buvo atliktos trys retorakotomijos. Pakartotinių operacijų metu buvo rastas įvairaus dydžio hemotoraksas (600–1100 ml), difuzinis kraujavimas iš krūtinės sienos be aiškaus vieno kraujavimo židinio. Visi pacientai pasveiko. Išvada Turimi duomenys yra būdingi įgimtam alfa-1 antitripsino sintezės defektui. Reikšminiai žodžiai: plaučių emfizema, spontaninis pneumotoraksas, pooperacinės komplikacijos, antitrombinas III Malfunction of blood clotting associated with hereditary pulmonary emphysema Vytis Bajoriūnas, Romaldas Rubikas, Paulius Gradauskas, Diana Samiatina, Algirdas Vilčinskas, Leonas JasulaitisClinic of Thoracic Surgery,Kaunas University of Medicine,Eivenių str. 2, LT-50009 Kaunas, LithuaniaE-mail: [email protected], [email protected] Background / objective There were five members of one family suffering from pulmonary emphysema complicated with spontaneous pneumothorax, treated at Kaunas Medical University Hospital since 2000 till 2003. The data from the case histories of all the patients are presented and the possible reasons for blood clotting dysfunction are discussed. Patients and methods Twelve members of the family have been or still are suffering from congenital pulmonary emphysema. Five members of the family were operated on. The surgey involved thoracotomy, resection of the damaged section of a lung, partial or total pleurectomy, pleural cavity drainage. Results All the patients underwent surgery, and in all cases the postoperative intrapleural bleeding was uncommonly intensive. In three cases rethoracotomies were performed. All patients survived. Conclusion The presented data characterise congenital alpha-1-antitrypsin deficiency. Keywords: pulmonary emphysema, spontaneous pneumothorax, post-operative complications, antithrombin

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