Pub Date : 2025-01-13DOI: 10.36416/1806-3756/e20240323
Andrea Albuja Hidalgo, Nicolás Almeida-Arostegui, María Soledad Alonso Viteri
{"title":"Left main bronchial rupture: bronchoscopy and chest CT.","authors":"Andrea Albuja Hidalgo, Nicolás Almeida-Arostegui, María Soledad Alonso Viteri","doi":"10.36416/1806-3756/e20240323","DOIUrl":"https://doi.org/10.36416/1806-3756/e20240323","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 6","pages":"e20240323"},"PeriodicalIF":2.9,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-13DOI: 10.36416/1806-3756/e20240307
Pedro Marx Nunes de Sousa, Felipe Welter Langer, Mariana Manica Tamiozzo
{"title":"Middle lobe torsion following right upper lobectomy.","authors":"Pedro Marx Nunes de Sousa, Felipe Welter Langer, Mariana Manica Tamiozzo","doi":"10.36416/1806-3756/e20240307","DOIUrl":"https://doi.org/10.36416/1806-3756/e20240307","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 6","pages":"e20240307"},"PeriodicalIF":2.9,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-16eCollection Date: 2024-01-01DOI: 10.36416/1806-3756/e20240269
Juliana Dias Nascimento Ferreira, Maycon Moura Reboredo, Eduardo Leite Vieira Costa, Lídia Maria Carneiro da Fonseca, Jaime Retamal, Fabrício Júnio Mendes Santos, Flavia de Paoli, Adenilson de Souza da Fonseca, Leda Marília Fonseca Lucinda, Bruno Valle Pinheiro
Objectives: Here, we investigated the effects of hyperventilation on acute lung injury (ALI) in spontaneously breathing rats.
Methods: Wistar rats were randomized to receive either intraperitoneal lipopolysaccharides (LPS) or saline, and intravenous infusion of NH4Cl (to induce metabolic acidosis and hyperventilation) or saline. Four groups were established: control-control (C-C), control-hyperventilation (C-HV), LPS-control (LPS-C), and LPS-hyperventilation (LPS-HV). Venous blood gases were collected before and after NH4Cl infusion and analyzed to confirm the presence of metabolic acidosis and hyperventilation. After euthanasia, lung injury was assessed using the ALI score, morphometric quantification of perivascular edema, neutrophil counts in the bronchoalveolar lavage, and mRNA expression of biological markers in the lung tissue.
Results: Hyperventilation induced inflammatory lung injury in previously healthy lungs and exacerbated injuries previously induced by LPS (ALI score: C-C=0.14 [IQR 0.12; 0.14]; C-HV=0.36 [IQR 0.31; 0.37]; LPS-C=0.51 [IQR 0.50; 0.54]; LPS-HV=0.58 [IQR 0.56; 0.62]; p<0.01). Perivascular edema, neutrophil counts in bronchoalveolar lavage, and amphiregulin mRNA expression were higher in the LPS-HV group compared to the control group.
Conclusions: Hyperventilation increased inflammatory injury in rats with ALI during spontaneous ventilation. These results suggest that the impact of vigorous spontaneous breathing efforts on worsening inflammatory lung injury warrants further investigation.
{"title":"Hyperventilation worsens inflammatory lung injury in spontaneously breathing rats.","authors":"Juliana Dias Nascimento Ferreira, Maycon Moura Reboredo, Eduardo Leite Vieira Costa, Lídia Maria Carneiro da Fonseca, Jaime Retamal, Fabrício Júnio Mendes Santos, Flavia de Paoli, Adenilson de Souza da Fonseca, Leda Marília Fonseca Lucinda, Bruno Valle Pinheiro","doi":"10.36416/1806-3756/e20240269","DOIUrl":"10.36416/1806-3756/e20240269","url":null,"abstract":"<p><strong>Objectives: </strong>Here, we investigated the effects of hyperventilation on acute lung injury (ALI) in spontaneously breathing rats.</p><p><strong>Methods: </strong>Wistar rats were randomized to receive either intraperitoneal lipopolysaccharides (LPS) or saline, and intravenous infusion of NH4Cl (to induce metabolic acidosis and hyperventilation) or saline. Four groups were established: control-control (C-C), control-hyperventilation (C-HV), LPS-control (LPS-C), and LPS-hyperventilation (LPS-HV). Venous blood gases were collected before and after NH4Cl infusion and analyzed to confirm the presence of metabolic acidosis and hyperventilation. After euthanasia, lung injury was assessed using the ALI score, morphometric quantification of perivascular edema, neutrophil counts in the bronchoalveolar lavage, and mRNA expression of biological markers in the lung tissue.</p><p><strong>Results: </strong>Hyperventilation induced inflammatory lung injury in previously healthy lungs and exacerbated injuries previously induced by LPS (ALI score: C-C=0.14 [IQR 0.12; 0.14]; C-HV=0.36 [IQR 0.31; 0.37]; LPS-C=0.51 [IQR 0.50; 0.54]; LPS-HV=0.58 [IQR 0.56; 0.62]; p<0.01). Perivascular edema, neutrophil counts in bronchoalveolar lavage, and amphiregulin mRNA expression were higher in the LPS-HV group compared to the control group.</p><p><strong>Conclusions: </strong>Hyperventilation increased inflammatory injury in rats with ALI during spontaneous ventilation. These results suggest that the impact of vigorous spontaneous breathing efforts on worsening inflammatory lung injury warrants further investigation.</p>","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 6","pages":"e20240269"},"PeriodicalIF":2.9,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-16DOI: 10.36416/1806-3756/e20240162
Marcos Otávio Antunes, Frederico Friedrich, Paulo Pitrez
{"title":"Correspondence about the article: Trends on the Brazilian asthma mortality rate: a call for a standardized protocol analysis from the DATASUS databasesAuthor's Reply about the article: Asthma in the Brazilian Unified Health Care System: An Epidemiological Analysis from 2008 to 2021.Asthma in the Brazilian Unified Health Care System an epidemiological analysis from 2008 to 2021The impact of asthma in Brazil a longitudinal analysis of data from a Brazilian national database system.","authors":"Marcos Otávio Antunes, Frederico Friedrich, Paulo Pitrez","doi":"10.36416/1806-3756/e20240162","DOIUrl":"10.36416/1806-3756/e20240162","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 6","pages":"e20240162"},"PeriodicalIF":2.9,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-16eCollection Date: 2024-01-01DOI: 10.36416/1806-3756/e20240317
Gabriela Ávila Marques, André F S Amaral, Valéria Lima Passos, Priscila Weber, Paula Duarte de Oliveira, Ana Maria Baptista Menezes, Helen Gonçalves, Fernando César Wehrmeister
Objectives: To estimate the prevalence of allergic rhinitis (AR), atopic dermatitis (AD), and wheezing, and to describe their patterns of co-occurrence according to different characteristics in adolescence and early adulthood.
Methods: Cross-sectional analyses from the 15-year and 22-year follow-ups of the 1993 Pelotas (Brazil) Birth Cohort. The outcomes were assessed based on self-reported data, and the patterns of co-occurrence were determined using cluster analysis. The sample was described using absolute and relative frequencies according to the independent variables. Venn diagrams were generated to visualize the co-occurrence of AR, AD, and wheezing.
Results: Data on AR, AD, and wheezing were available for 4,286 participants at 15 years and 3,789 at 22 years. At 15 years, AR was reported by 20.9% of participants, AD by 25.2%, and wheezing by 33.4%. Meanwhile, at 22 years, AR was reported by 24.6%, AD by 14.2%, and wheezing by 30.7%. Notably, the overlap between AR and wheezing was greater than that of the other conditions (6.9% at 15 years and 8.3% at 22 years). Participants with lower maternal education and lower income were more likely to report having "no health condition". At 15 years, White individuals most frequently reported "three conditions" (4.1%; p<0.001), whereas at 22 years, they primarily reported "two conditions" (15.6%; p<0.001). The co-occurrence of all three health conditions was found to be greater than expected, with an observed rate 2.1 times higher (95% CI 1.4 - 3.0) at 22 years.
Conclusions: This study highlights the social gradient in the diagnosis and reporting of co-occurrence of AR, AD, and wheezing.
{"title":"Prevalence of allergic rhinitis, atopic dermatitis, and wheezing at 15 and 22 years of age: the 1993 Pelotas (Brazil) Birth Cohort Study.","authors":"Gabriela Ávila Marques, André F S Amaral, Valéria Lima Passos, Priscila Weber, Paula Duarte de Oliveira, Ana Maria Baptista Menezes, Helen Gonçalves, Fernando César Wehrmeister","doi":"10.36416/1806-3756/e20240317","DOIUrl":"10.36416/1806-3756/e20240317","url":null,"abstract":"<p><strong>Objectives: </strong>To estimate the prevalence of allergic rhinitis (AR), atopic dermatitis (AD), and wheezing, and to describe their patterns of co-occurrence according to different characteristics in adolescence and early adulthood.</p><p><strong>Methods: </strong>Cross-sectional analyses from the 15-year and 22-year follow-ups of the 1993 Pelotas (Brazil) Birth Cohort. The outcomes were assessed based on self-reported data, and the patterns of co-occurrence were determined using cluster analysis. The sample was described using absolute and relative frequencies according to the independent variables. Venn diagrams were generated to visualize the co-occurrence of AR, AD, and wheezing.</p><p><strong>Results: </strong>Data on AR, AD, and wheezing were available for 4,286 participants at 15 years and 3,789 at 22 years. At 15 years, AR was reported by 20.9% of participants, AD by 25.2%, and wheezing by 33.4%. Meanwhile, at 22 years, AR was reported by 24.6%, AD by 14.2%, and wheezing by 30.7%. Notably, the overlap between AR and wheezing was greater than that of the other conditions (6.9% at 15 years and 8.3% at 22 years). Participants with lower maternal education and lower income were more likely to report having \"no health condition\". At 15 years, White individuals most frequently reported \"three conditions\" (4.1%; p<0.001), whereas at 22 years, they primarily reported \"two conditions\" (15.6%; p<0.001). The co-occurrence of all three health conditions was found to be greater than expected, with an observed rate 2.1 times higher (95% CI 1.4 - 3.0) at 22 years.</p><p><strong>Conclusions: </strong>This study highlights the social gradient in the diagnosis and reporting of co-occurrence of AR, AD, and wheezing.</p>","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 6","pages":"e20240317"},"PeriodicalIF":2.9,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: To provide an update on asthma mortality trends in Brazil and its regions between 2014 and 2021.
Methods: This was a retrospective descriptive observational study based on asthma mortality data from the Brazilian National Ministry of Health Mortality Database for the 2014-2021 period.
Results: In the study period, there were 18,584 asthma deaths in Brazil, with an annual increase of 2.5%, corresponding to 0.03 deaths/100,000 population (95% CI, 0.01-0.04; p = 0.01). The northeastern region of the country had the highest prevalence of asthma deaths (1.50 deaths/100,000 population), and the southern region showed the greatest variation in the study period (44%). We observed a higher proportion of deaths among females and elderly patients, and when analyzing asthma deaths by place of occurrence, we observed that 28% of all deaths occurred at home.
Conclusions: Asthma mortality remains high and shows an increasing trend for the first time in the past decades. This constitutes an important public health concern, given the treatable nature of the disease.
{"title":"Recent increase in asthma mortality in Brazil: a warning sign for the public health system.","authors":"Marcos Brum, Jordana Henz, Mariana Boeira, Simoni Soares, Frederico Friedrich, Paulo Márcio Pitrez","doi":"10.36416/1806-3756/e20240138","DOIUrl":"10.36416/1806-3756/e20240138","url":null,"abstract":"<p><strong>Objective: </strong>To provide an update on asthma mortality trends in Brazil and its regions between 2014 and 2021.</p><p><strong>Methods: </strong>This was a retrospective descriptive observational study based on asthma mortality data from the Brazilian National Ministry of Health Mortality Database for the 2014-2021 period.</p><p><strong>Results: </strong>In the study period, there were 18,584 asthma deaths in Brazil, with an annual increase of 2.5%, corresponding to 0.03 deaths/100,000 population (95% CI, 0.01-0.04; p = 0.01). The northeastern region of the country had the highest prevalence of asthma deaths (1.50 deaths/100,000 population), and the southern region showed the greatest variation in the study period (44%). We observed a higher proportion of deaths among females and elderly patients, and when analyzing asthma deaths by place of occurrence, we observed that 28% of all deaths occurred at home.</p><p><strong>Conclusions: </strong>Asthma mortality remains high and shows an increasing trend for the first time in the past decades. This constitutes an important public health concern, given the treatable nature of the disease.</p>","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 5","pages":"e20240138"},"PeriodicalIF":2.9,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601068/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-06eCollection Date: 2024-01-01DOI: 10.36416/1806-3756/e20240302
Laura Cordeiro Madeira, Paulo de Tarso Dalcin, Gabriele Heinen Schuster, Bruna Conte, Jonas Michel Wolf, Annia Schreiber, Jean-Jacques Rouby, Felippe Leopoldo Dexheimer-Neto
Objective: To compare pre-extubation physiological characteristics and ultrasound variables between patients intubated for COVID-19 compared to a clinical population and those intubated for other reasons.
Methods: This was a secondary analysis of a prospective cohort study of patients undergoing invasive mechanical ventilation (IMV) for more than 48 h. Patients were divided into two groups: those intubated for COVID-19-induced ARDS and those intubated for other clinical reasons. Ultrasound assessment of lung and diaphragm function was performed before extubation. The results were compared between the two groups of patients.
Results: In comparison with the patients without COVID-19, those with the disease were younger (a median age of 58 [46-76] years vs. a median age of 75 [69-85] years; p = 0.01), had fewer comorbidities (a median Charlson Comorbidity Index of 2 [1-4] vs. a median Charlson Comorbidity Index of 5 [4-6]; p < 0.01), and were less severely ill at admission (a median APACHE II score of 9 [8-14] vs. a median APACHE II score of 18 [13-22]; p < 0.01). In addition, the median duration of IMV was longer in the COVID-19 patients (11 [9-23] days vs. 6 [3-8] days; p < 0.01). Although extubation success rates were similar between the COVID-19 and non-COVID-19 groups (22 [71%] vs. 35 [77.8%]), median lung ultrasound score differed between the two groups (23 [18-25] vs. 15 [11-18]; p < 0.01), as did median diaphragmatic excursion (2.1 [1.7-2.4] vs. 1.7 [1.2-2.0]; p < 0.01).
Conclusions: Although patients with COVID-19 requiring ventilatory support are younger and have fewer comorbidities than those intubated for other clinical reasons, they experience longer hospital stays. Although lung ultrasound score can differ between patients with and without COVID-19, these differences do not significantly translate into extubation success rates. Therefore, the utility of ultrasound scores in weaning COVID-19 patients from IMV needs further study.
{"title":"Lung ultrasound score and diaphragm ultrasound in weaning from mechanical ventilation: are they different in patients with and without COVID-19?","authors":"Laura Cordeiro Madeira, Paulo de Tarso Dalcin, Gabriele Heinen Schuster, Bruna Conte, Jonas Michel Wolf, Annia Schreiber, Jean-Jacques Rouby, Felippe Leopoldo Dexheimer-Neto","doi":"10.36416/1806-3756/e20240302","DOIUrl":"10.36416/1806-3756/e20240302","url":null,"abstract":"<p><strong>Objective: </strong>To compare pre-extubation physiological characteristics and ultrasound variables between patients intubated for COVID-19 compared to a clinical population and those intubated for other reasons.</p><p><strong>Methods: </strong>This was a secondary analysis of a prospective cohort study of patients undergoing invasive mechanical ventilation (IMV) for more than 48 h. Patients were divided into two groups: those intubated for COVID-19-induced ARDS and those intubated for other clinical reasons. Ultrasound assessment of lung and diaphragm function was performed before extubation. The results were compared between the two groups of patients.</p><p><strong>Results: </strong>In comparison with the patients without COVID-19, those with the disease were younger (a median age of 58 [46-76] years vs. a median age of 75 [69-85] years; p = 0.01), had fewer comorbidities (a median Charlson Comorbidity Index of 2 [1-4] vs. a median Charlson Comorbidity Index of 5 [4-6]; p < 0.01), and were less severely ill at admission (a median APACHE II score of 9 [8-14] vs. a median APACHE II score of 18 [13-22]; p < 0.01). In addition, the median duration of IMV was longer in the COVID-19 patients (11 [9-23] days vs. 6 [3-8] days; p < 0.01). Although extubation success rates were similar between the COVID-19 and non-COVID-19 groups (22 [71%] vs. 35 [77.8%]), median lung ultrasound score differed between the two groups (23 [18-25] vs. 15 [11-18]; p < 0.01), as did median diaphragmatic excursion (2.1 [1.7-2.4] vs. 1.7 [1.2-2.0]; p < 0.01).</p><p><strong>Conclusions: </strong>Although patients with COVID-19 requiring ventilatory support are younger and have fewer comorbidities than those intubated for other clinical reasons, they experience longer hospital stays. Although lung ultrasound score can differ between patients with and without COVID-19, these differences do not significantly translate into extubation success rates. Therefore, the utility of ultrasound scores in weaning COVID-19 patients from IMV needs further study.</p>","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 5","pages":"e20240302"},"PeriodicalIF":2.9,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-06DOI: 10.36416/1806-3756/e20240270
Edson Marchiori, Bruno Hochhegger, Gláucia Zanetti
{"title":"Pulmonary laceration.","authors":"Edson Marchiori, Bruno Hochhegger, Gláucia Zanetti","doi":"10.36416/1806-3756/e20240270","DOIUrl":"10.36416/1806-3756/e20240270","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 5","pages":"e20240270"},"PeriodicalIF":2.9,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601086/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-06eCollection Date: 2024-01-01DOI: 10.36416/1806-3756/e20240235
Paulo Henrique Ramos Feitosa, Maria Vera Cruz de Oliveira Castellano, Claudia Henrique da Costa, Amanda da Rocha Oliveira Cardoso, Luiz Fernando Ferreira Pereira, Frederico Leon Arrabal Fernandes, Fábio Marcelo Costa, Manuela Brisot Felisbino, Alina Faria França de Oliveira, Jose R Jardim, Marc Miravitlles
Alpha-1 antitrypsin deficiency (AATD) is a relatively rare genetic disorder, inherited in an autosomal codominant manner, that results in reduced serum AAT concentrations, with a consequent reduction in antielastase activity in the lungs, as well as an increased risk of diseases such as pulmonary emphysema, liver cirrhosis, and necrotizing panniculitis. It results from different mutations in the SERPINA1 gene, leading to changes in the AAT glycoprotein, which can alter its concentration, conformation, and function. Unfortunately, underdiagnosis is quite common; it is possible that only 10% of cases are diagnosed. The most common deficiency is in the Z variant, and it is estimated that more than 3 million people worldwide have combinations of alleles associated with severe AATD. Serum AAT concentrations should be determined, and allelic variants should be identified by phenotyping or genotyping. Monitoring lung function, especially through spirometry, is essential, because it provides information on the progression of the disease. Although pulmonary densitometry appears to be the most sensitive measure of emphysema progression, it should not be used in routine clinical practice to monitor patients. In general, the treatment is similar to that indicated for patients with COPD not caused by AATD. Exogenous administration of purified human serum-derived AAT is the only specific treatment approved for AATD in nonsmoking patients with severe deficiency (serum AAT concentration of < 57 mg/dL or < 11 µM), with evidence of functional loss above the physiological level.
{"title":"Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency.","authors":"Paulo Henrique Ramos Feitosa, Maria Vera Cruz de Oliveira Castellano, Claudia Henrique da Costa, Amanda da Rocha Oliveira Cardoso, Luiz Fernando Ferreira Pereira, Frederico Leon Arrabal Fernandes, Fábio Marcelo Costa, Manuela Brisot Felisbino, Alina Faria França de Oliveira, Jose R Jardim, Marc Miravitlles","doi":"10.36416/1806-3756/e20240235","DOIUrl":"10.36416/1806-3756/e20240235","url":null,"abstract":"<p><p>Alpha-1 antitrypsin deficiency (AATD) is a relatively rare genetic disorder, inherited in an autosomal codominant manner, that results in reduced serum AAT concentrations, with a consequent reduction in antielastase activity in the lungs, as well as an increased risk of diseases such as pulmonary emphysema, liver cirrhosis, and necrotizing panniculitis. It results from different mutations in the SERPINA1 gene, leading to changes in the AAT glycoprotein, which can alter its concentration, conformation, and function. Unfortunately, underdiagnosis is quite common; it is possible that only 10% of cases are diagnosed. The most common deficiency is in the Z variant, and it is estimated that more than 3 million people worldwide have combinations of alleles associated with severe AATD. Serum AAT concentrations should be determined, and allelic variants should be identified by phenotyping or genotyping. Monitoring lung function, especially through spirometry, is essential, because it provides information on the progression of the disease. Although pulmonary densitometry appears to be the most sensitive measure of emphysema progression, it should not be used in routine clinical practice to monitor patients. In general, the treatment is similar to that indicated for patients with COPD not caused by AATD. Exogenous administration of purified human serum-derived AAT is the only specific treatment approved for AATD in nonsmoking patients with severe deficiency (serum AAT concentration of < 57 mg/dL or < 11 µM), with evidence of functional loss above the physiological level.</p>","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 5","pages":"e20240235"},"PeriodicalIF":2.9,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-06DOI: 10.36416/1806-3756/e20230403
Marta Amor Barbosa, Fernanda Maria Vendrusculo, Matias Epifanio, Marcio Vinicius Fagundes Donadio, Leonardo Araujo Pinto
{"title":"Short-term effects of elexacaftor/tezacaftor/ivacaftor in pediatric cystic fibrosis patients in Brazil: a case series.","authors":"Marta Amor Barbosa, Fernanda Maria Vendrusculo, Matias Epifanio, Marcio Vinicius Fagundes Donadio, Leonardo Araujo Pinto","doi":"10.36416/1806-3756/e20230403","DOIUrl":"10.36416/1806-3756/e20230403","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 5","pages":"e20230403"},"PeriodicalIF":2.9,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11601090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}