Objective: To evaluate the association between nutritional status measurements and pulmonary function in children and adolescents with cystic fibrosis. Methods: We evaluated the nutritional status of 48 children and adolescents (aged 6-18 years) with cystic fibrosis based on body mass index (BMI) and body composition measurements-mid-arm muscle circumference (MAMC) and triceps skinfold thickness (TST)-at a referral center in the city of Rio de Janeiro, Brazil. Pulmonary function was assessed by means of spirometry, using FEV1 to classify the severity of airway obstruction. We used Student's t-tests for comparisons between proportions and linear regression analysis for associations between continuous variables. The level of significance was set at p < 0.05. Results: The evaluation of nutritional status based on BMI identified a smaller number of malnourished patients than did that based on MAMC (14 vs. 25 patients, respectively). Most of the patients presented mild pulmonary disease. Mean FEV1 was 82.5% of predicted. Pulmonary function was found to correlate significantly with BMI, MAMC and TST (p = 0.001, p = 0.001 and p = 0.03, respectively). All subjects with moderate or severe pulmonary involvement were considered malnourished based on BMI and body composition parameters. Of the 25 patients considered malnourished based on body composition (MAMC), 19 were considered well-nourished based on their BMI. Conclusions: In the present study, all nutritional status measurements correlated directly with the pulmonary function of children and adolescents with cystic fibrosis. However, body composition measurements allowed earlier detection of nutritional deficiencies.

Keywords: Cystic fibrosis; Body composition; Spirometry; Nutrition assessment.

Objective: To determine the relationship between nutritional status and dietary intake in patients with cystic fibrosis. Methods: Cross-sectional study involving 85 cystic fibrosis patients between 6 and 18 years of age. Dietary intake was evaluated by the 3-day diet record (weighing the food consumed). The outcome measures were the following nutritional status indicators: weight/height (W/H%) percentage, body mass index (BMI) percentiles, Z score for weight/age (W/A), Z score for height/age (H/A) and percentage of dietary intake compared with the Recommended Dietary Allowance (RDA). Results: The prevalence of well-nourished patients was 77.7%, using BMI above the 25th percentile as the cut-off value, and the W/H% was above 90% in 83.5%. The mean dietary intake, evaluated in 82 patients, was 124.5% of the RDA. In the univariate logistic regression analyses, we found a significant association between the independent variable calorie intake and the Z score for W/A. The multivariate analysis, based on the Z score for H/A and adjusted for FEV1, methicillin-resistant Staphylococcus aureus colonization and number of hospitalizations, demonstrated that a 1% increase in the calorie intake decreases the chance of having short stature by 2% (OR: 0.98; 95% CI: 0.96-1.00). Maternal level of education showed a borderline association (p = 0.054). Conclusions: The prevalence of malnutrition was low in this sample of patients. The study model demonstrated an association between dietary intake and nutritional status. Dietary intake was a predictive factor of statural growth in patients with cystic fibrosis.

Keywords: Cystic fibrosis; Nutritional status; Diet records; Child; Adolescent.

Objective: To evaluate whether anthropometric and dietary intake indicators are predictors of pulmonary function in cystic fibrosis (CF) patients. Methods: This was a cross-sectional study involving 69 patients (age range, 5.4-16.5 years) diagnosed with CF under follow-up at the Hospital de Clínicas de Porto Alegre, located in the city of Porto Alegre, Brazil. Anthropometric assessment was based on body mass index (BMI), mid-arm muscle circumference (MAMC), and triceps skinfold thickness (TST). Dietary intake was assessed by using recall data, which were compared with the recommended dietary allowances. Pulmonary function was assessed by ventilatory capacity, expressed as FEV1. Prevalence ratios for the outcome studied (FEV1 < 80% of predicted) were calculated by indicator. Results: In patients with MAMC and TST below the 25th percentile, the prevalence of FEV1 < 80% of predicted was significantly higher than in those with higher MAMC and TST (p < 0.001 and p = 0.011, respectively). In comparison with other patients, those with a BMI below the 50th percentile showed a 4.43 times higher prevalence of FEV1 < 80% of predicted (95% CI: 1.58-12.41), and that prevalence was 2.54 times higher in those colonized with methicillin-resistant Staphylococcus aureus (MRSA) than in those not so colonized (95% CI: 1.43-4.53). The association between dietary intake and the prevalence of FEV1 < 80% of predicted was of only borderline significance (95% CI: 0.95-3.45). Conclusions: Not being colonized with MRSA and having a BMI above the 50th percentile appear to preserve pulmonary function in CF patients.

Keywords: Cystic fibrosis; Respiratory function tests; Nutrition assessment; Energy intake.

Objective: Cystic fibrosis (CF) is a chronic multisystemic hereditary disease for which a multidisciplinary approach must be taken. The objective of this study was to show the evolution of a group of patients with CF after the implementation of multidisciplinary treatment. Methods: A retrospective study involving 19 patients (6-29 years of age) under clinical follow-up treatment at the University of São Paulo at Ribeirão Preto School of Medicine Hospital das Clínicas, located in the city of Ribeirão Preto, Brazil. The patients were divided into two groups: 6-12(6-12 years of age) and 13+ (> 12 years of age). We collected data regarding body mass index (BMI), Zscore, Shwachman score (SS), number of exacerbations/year, chronic colonization by Pseudomonas aeruginosa, and spirometric measurements (FVC, FEV1, FEV1%, and FEF25-75%). Data were collected at two different time points (before and after the implementation of the multidisciplinary treatment) and were analyzed with the Wilcoxon signed rank test. Results: The median age at the onset of symptoms was 10 months. In the 6-12 group, only BMI and FVC increased significantly. Although the other spirometric values increased, the differences were not significant. In the 13+ group, there were no significant differences between the two time points. There was a borderline significant decrease in SS and less than significant decreases in the spirometric measurements. However, the number of patients with alterations in volumes and flows decreased in both groups. Conclusions: Although our patient sample was small, the lack of changes in the spirometric parameters might reflect clinical and functional stability. In all of the patients evaluated, clinical, functional, and nutritional parameters remained stable throughout the study period. The implementation of a multidisciplinary approach might have contributed to this result.

Keywords: Cystic fibrosis; Spirometry; Body mass index; Physical therapy modalities.

Objective: To determine the prevalence of nocturnal hypoxemia and its association with pulmonary function, nutritional status, sleep macrostructure, and obstructive respiratory events during sleep in a population of clinically stable children and adolescents with cystic fibrosis (CF). Methods: This was a cross-sectional study involving 67 children and adolescents with CF between 2 and 14 years of age. All of the participants underwent polysomnography, and SpO2 was measured by pulse oximetry. We also evaluated the Shwachman-Kulczycki (S-K) scores, spirometry findings, and nutritional status of the patients. Results: The study involved 67 patients. The mean age of the patients was 8 years. The S-K scores differed significantly between the patients with and without nocturnal hypoxemia, which was defined as an SpO2 < 90% for more than 5% of the total sleep time (73.75  6.29 vs. 86.38  8.70; p < 0.01). Nocturnal hypoxemia correlated with the severity of lung disease, FEV1 (rs = −0.42; p = 0.01), FVC (rs = −0.46; p = 0.01), microarousal index (rs = 0.32; p = 0.01), and apnea-hypopnea index (rs = 0.56; p = 0.01). Conclusions: In this sample of patients with CF and mild-to-moderate lung disease, nocturnal oxygenation correlated with the S-K score, spirometry variables, sleep macrostructure variables, and the apnea-hypopnea index.

Keywords: Cystic fibrosis; Sleep; Oximetry.

Objective: To evaluate health-related quality of life in asthma patients treated at a referral center in southern Brazil, identifying differences between male and female patients, as well as to evaluate differences between the males and females in terms of asthma control, lung function, and nutritional status. Methods: This was a cross-sectional study involving patients ≥ 18 years of age treated at an asthma outpatient clinic. We evaluated clinical parameters, lung function, nutritional status, and quality of life. Results: A total of 198 patients completed the study. The mean age was 56.2 ± 14.8 years, and 81.8% were female. The proportion of patients with uncontrolled asthma was higher among females than among males (63.0% vs. 44.4%; p = 0.041). The body mass index (BMI) and percentage of body fat were higher in females than in males (30.2 ± 5.8 kg/m2 vs. 26.9 ± 4.5 kg/m2 and 37.4 ± 6.4% vs. 26.5 ± 7.4%; p = 0.002 and p < 0.001, respectively). Quality of life was lower in females than in males in the following domains: symptoms (3.8 ± 1.5 vs. 4.6 ± 1.7; p = 0.006); activity limitation (3.6 ± 1.3 vs. 4.4 ± 1.5; p = 0.001); emotional function (3.6 ± 1.9 vs. 4.5 ± 1.7; p = 0.014); and environmental stimuli (3.2 ± 1.6 vs. 4.3 ± 1.9; p = 0.001). Conclusions: Male asthma patients appear to fare better than do female asthma patients in terms of health-related quality of life, asthma control, BMI, percentage of body fat, and comorbidities.

Keywords: Asthma; Nutritional status; Quality of life; Adult.

Objective: To describe the pulmonary function in children and adolescents with postinfectious bronchiolitis oblite­rans (PIBO), as well as to evaluate potential risk factors for severe impairment of pulmonary function. Methods: The pulmonary function of 77 participants, aged 8-18 years, was assessed by spirometry and plethysmography. The following parameters were analyzed: FVC; FEV1; FEF25-75%; FEV1/FVC; RV; TLC; RV/TLC; intrathoracic gas volume; and specific airway resistance (sRaw). We used Poisson regression to investigate the following potential risk factors for severe impairment of pulmonary function: gender; age at first wheeze; age at diagnosis; family history of asthma; tobacco smoke exposure; length of hospital stay; and duration of mechanical ventilation. Results: The mean age was 13.5 years. There were pronounced decreases in FEV1 and FEF25-75%, as well as increases in RV and sRaw. These alterations are characteristic of obstructive airway disease. For the parameters that were the most affected, the mean values (percentage of predicted) were as follows: FEV1 = 45.9%; FEF25-75% = 21.5%; RV = 281.1%; RV/TLC = 236.2%; and sRaw = 665.3%. None of the potential risk factors studied showed a significant association with severely impaired pulmonary function. Conclusions: The patients with PIBO had a common pattern of severe pulmonary function impairment, characterized by marked airway obstruction and pronounced increases in RV and sRaw. The combination of spirometric and plethysmographic measurements can be more useful for assessing functional damage, as well as in the follow-up of these patients, than are either of these techniques used in isolation. Known risk factors for respiratory diseases do not seem to be associated with severely impaired pulmonary function in PIBO.

Keywords: Respiratory function tests; Airway obstruction; Bronchiolitis obliterans

Objective: Asthma is the most common chronic pulmonary disease, characterized by bronchial inflammation. Some children with asthma have persistent pulmonary function impairment. The prevalence and etiology of this abnormality in children with asthma in developing countries remain unknown. The objective of this study was to estimate the proportion of patients with impaired pulmonary function who were unresponsive to treatment in a group of children and adolescents with asthma, and to describe the phenotypic characteristics of the sample. Methods: Using a standardized questionnaire, we selected outpatients (5-17 years of age) diagnosed with persistent asthma. These patients underwent spirometry and skin prick tests for sensitivity to common aeroallergens. Persistent pulmonary function impairment was defined as an FEV1/FVC ratio < 0.80, even after 10 days of treatment with bronchodilators and oral corticosteroids. We used the atopic index to differentiate between patients with little or no response to the skin prick test and those with a strong response (cut-off point: 4 allergens). Results: We included 96 patients with a mean age of 10.6 years. Of those, 52 (54.1%) were male, and 89 (92.7%) were atopic. Of the 96 patients, 8 (8.3%) had impaired pulmonary function even after the treatment. Among those patients, 8 (100%) were atopic, 7 (87.5%) had moderate or severe asthma, and 7 (87.5%) had a history of hospitalization for acute bronchiolitis. Conclusions: Children and adolescents with moderate or severe asthma can present with impaired pulmonary function and be unresponsive to treatment. This clinical situation has been little studied in developing countries, and its risk factors and etiology will be better understood only through birth cohort studies.

Keywords: Asthma; Respiratory function tests; Allergy and immunology.

Background: Spirometry is widely used in the diagnosis and quantification of respiratory disorders such as asthma. A microspirometer is a portable and easily used apparatus that can substitute for a regular spirometer, although there is little evidence of its accuracy. Objective: To compare the microspirometer to a regular spirometer for use in asthmatic children and adolescents. Methods: The instruments used were a Micro Spirometer, manufactured by Micro Medical, and a conventional Cosmed Pony Graphic 3.5 spirometer, both with turbinometers (flow sensors). The study sample consisted of 62 children and adolescents, of both genders, clinically diagnosed with asthma and under treatment at a pulmonology clinic. Ages ranged from 5 and 16 years. All spirometric tests were carried out according to the guidelines established by the American Thoracic Society and by the Associacão Brasileira de Normas Técnicas (Brazilian Technical Standards Association). For each patient, microspirometry was performed first, followed by conventional spirometry. The parameters analyzed in both devices were forced vital capacity, forced expiratory volume in one second and peak expiratory flow. Data were analyzed using the Student's t-test and Pearson's correlation test. Results: Strong correlations were found between the two devices in the parameters analyzed: forced expiratory volume in one second: r = 0.97; forced vital capacity: r = 0.97; and peak expiratory flow: r = 0.91. Conclusion: These results demonstrate that the microspirometer is a useful diagnostic tool that can be used when a conventional spirometer is unavailable.

Keywords: Key words: Asthma. Spirometry. Micro spirometer. Puomonary ventilation.

Objectives: To characterize the main identified mutations on cystic fibrosis transmembrane conductance regulator (CFTR) in a group of children and adolescents at a cystic fibrosis center and its association with the clinical and laboratorial characteristics. Method: Descriptive cross-sectional study including patients with cystic fibrosis who had two alleles identified with CFTR mutation. Clinical, anthropometrical, laboratorial and pulmonary function (spirometry) data were collected from patients' records in charts and described with the results of the sample genotyping. Results: 42 patients with cystic fibrosis were included in the study. The most frequent mutation was F508del, covering 60 alleles (71.4%). The second most common mutation was G542X (six alleles, 7.1%), followed by N1303K and R1162X mutations (both with four alleles each). Three patients (7.14%) presented type III and IV mutations, and 22 patients (52.38%) presented homozygous mutation for F508del. Thirty three patients (78.6%) suffered of pancreatic insufficiency, 26.2% presented meconium ileus, and 16.7%, nutritional deficit. Of the patients in the study, 59.52% would be potential candidates for the use of CFTR-modulating drugs. Conclusions: The mutations of CFTR identified more frequently were F508del and G542X. These are type II and I mutations, respectively. Along with type III, they present a more severe cystic fibrosis phenotype. More than half of the sample (52.38%) presented homozygous mutation for F508del, that is, patients who could be treated with Lumacaftor/Ivacaftor. Approximately 7% of the patients (7.14%) presented type III and IV mutations, therefore becoming candidates for the treatment with Ivacaftor.

Keywords: Cystic fibrosis; Mutations; Genetics; Phenotype; Child

Objetivo: Analisar as características funcionais pulmonares, a resposta farmacodinâmica a um broncodilatador e sua prescrição em pacientes com diagnóstico de fibrose cística (FC). Métodos: Estudo de coorte retrospectivo de pacientes (6-18 anos) com diagnóstico de FC acompanhados em um centro de referência, capazes de realizar testes de função pulmonar (TFP) entre 2008 e 2010. Foram analisados CVF, VEF1 e FEF25-75%, em percentual do previsto, antes e após prova broncodilatadora (pré-BD e pós-BD, respectivamente) de 312 TFP. Foram realizadas ANOVA para medidas repetidas e comparações múltiplas. Resultados: Foram incluídos no estudo 56 pacientes. Desses, 37 e 19, respectivamente, tinham resultados de TFP entre 2008 e 2010 e apenas em 2009-2010, formando dois grupos. No grupo com TFP nos três anos estudados, houve redução significativa em VEF1 pós-BD em 2008-2010 (p = 0,028) e 2009-2010 (p = 0,036) e em FEF25-75% pré-BD e pós-BD em todas as comparações múltiplas (2008 vs. 2009; 2008 vs. 2010; e 2009 vs. 2010). No grupo com TFP apenas em 2009-2010, não houve diferenças significativas em nenhuma das comparações das variáveis estudadas. Dos 312 TFP, somente 24 (7,7%) apresentaram resposta significativa ao broncodilatador e pertenciam a pacientes sem prescrição de broncodilatador durante o período estudado. Conclusões: Houve perda funcional, com indicação de doença pulmonar progressiva, nos pacientes com FC estudados. Houve maiores alterações no FEF25-75%, sugerindo o comprometimento inicial de vias aéreas menores.

Keywords: Fibrose cística; Testes de função respiratória; Broncodilatadores.

Objective: To determine whether the level of physical activity in daily life (PADL) is associated with pulmonary function in adult smokers. Methods: We selected 62 adult smokers from among the participants of an epidemiological study conducted in the city of Santos, Brazil. The subjects underwent forced spirometry for pulmonary function assessment. The level of PADL was assessed by the International Physical Activity Questionnaire and triaxial accelerometry, the device being used for seven days. The minimum level of PADL, in terms of quantity and intensity, was defined as 150 min/week of moderate to vigorous physical activity. Correlations between the studied variables were tested with Pearson's or Spearman's correlation coefficient, depending on the distribution of the variables. We used linear multiple regression in order to analyze the influence of PADL on the spirometric variables. The level of significance was set at 5%. Results: Evaluating all predictors, corrected for confounding factors, and using pulmonary function data as outcome variables, we found no significant associations between physical inactivity, as determined by accelerometry, and spirometric indices. The values for FVC were lower among the participants with arterial hypertension, and FEV1/FVC ratios were lower among those with diabetes mellitus. Obese participants and those with dyslipidemia presented with lower values for FVC and FEV1. Conclusions: Our results suggest that there is no consistent association between physical inactivity and pulmonary function in adult smokers. Smoking history should be given special attention in COPD prevention strategies, as should cardiovascular and metabolic comorbidities.

Keywords: Smoking; Respiratory function tests; Motor activity; Accelerometry.

Objective: To describe the profile of patients with cystic fibrosis (CF). Methods: A prospective, cross-sectional study involving CF patients ≤ 18 years of age, evaluated between March and July of 2006 at a referral center in northeastern Brazil. Nutritional assessment was performed using Z scores for height/age (H/A), weight/age (W/A) and weight/height (W/H), as well as %weight/height (%W/H) and body composition measurements. Socioeconomic and clinical data were obtained. Results: Twenty-one patients were evaluated, 12 (57.1%) of whom were female. Mean age at diagnosis was 3.8 ± 3.9 years. The principal features at diagnosis were respiratory infection (85.7%), steatorrhea (66.7%) and nutritional deficit (47.6%). The mean Z scores for W/A, H/A and W/H were 0.73 ± 0.28, 0.34 ± 0.21 and 0.73 ± 0.35, respectively. Mean %W/H was 94.52 ± 1.58. The percentage of malnourished children assessed by Z score differed from that assessed by %W/H (nutritional deficit in 66.7% and 33.3%, respectively; p > 0.05). Socioeconomic status, clinical status and Shwachman score were better among well-nourished patients than among those classified as malnourished (p < 0.05 for Shwachman score). Conclusions: Normal nutritional status was identified based on nutritional indicators (W/A, H/A and W/H), whereas nutritional deficit was identified by assessing body composition. Socioeconomic factors proved favorable, especially maternal education and per capita income. Age at diagnosis was higher than that reported in the literature, although the Shwachman score and the incidence of respiratory infections demonstrated that the patients presented good clinical status.

Keywords: Cystic fibrosis; Nutritional assessment; Symptoms, clinical; Socioeconomic factors.

Objective: To evaluate the level of self-reported adherence to physical therapy recommendations in pediatric patients (6-17 years) with cystic fibrosis (CF) and to ascertain whether the different levels of adherence correlate with pulmonary function, clinical aspects, and quality of life. Methods: This was a cross-sectional study. The patients and their legal guardians completed a questionnaire regarding adherence to physical therapy recommendations and a CF quality of life questionnaire. We collected demographic, spirometric, and bacteriological data, as well as recording the frequency of hospitalizations and Shwachman-Kulczycki (S-K) clinical scores. Results: We included 66 patients in the study. Mean age, FEV1 (% of predicted), and BMI were 12.2 ± 3.2 years, 90 ± 24%, and 18.3 ± 2.5 kg/m2, respectively. The patients were divided into two groups: high-adherence (n = 39) and moderate/poor-adherence (n = 27). No statistically significant differences were found between the groups regarding age, gender, family income, and total S-K clinical scores. There were statistically significant differences between the high-adherence group and the moderate/poor-adherence group, the latter showing lower scores for the "radiological findings" domain of the S-K clinical score (p = 0.030), a greater number of hospitalizations (p = 0.004), and more days of hospitalization in the last year (p = 0.012), as well as lower scores for the quality of life questionnaire domains emotion (p = 0.002), physical (p = 0.019), treatment burden (p < 0.001), health perceptions (p = 0.036), social (p = 0.039), and respiratory (p = 0.048). Conclusions: Low self-reported adherence to physical therapy recommendations was associated with worse radiological findings, a greater number of hospitalizations, and decreased quality of life in pediatric CF patients.

Keywords: Cystic fibrosis; Patient compliance; Physical therapy modalities; Quality of life.

Objective: To study correlations among pulmonary function, chest radiology and clinical status in cystic fibrosis. Methods: A retrospective cross-sectional study was performed to evaluate chest X-rays and clinical charts of patients treated at the Hospital de Clínicas de Porto Alegre. Spirometry findings, Shwachman-Kulczycki (S-K) scores and Brasfield scores were analyzed. Results: The final sample consisted of 40 patients (mean age 9.72 ± 3.27). The following mean S-K scores were obtained: total, 80.87 ± 10.24; general activity, 24.75 ± 1.1; physical examination, 18.87 ± 4.59; nutrition, 21.87 ± 4.18; radiology, 15.37 ± 5.23. The mean Brasfield score was 18.2 ± 4. The pulmonary function test results, in percentage of predicted, were as follows: forced vital capacity (FVC), 82.99 ± 14.36%; forced expiratory volume in one second (FEV1), 83.62 ± 18.26%; and forced expiratory flow between 25 and 75% of FVC (FEF25-75), 74.63 ± 2.53%. The S-K score correlated moderately with FVC, whereas it correlated strongly with FEV1 and FEF25-75. The Brasfield score correlated strongly with the S-K total and radiology score, whereas it correlated moderately with pulmonary function. Physical examination correlated moderately with FVC, FEV1 and FEF25-75; as did nutrition with FEF25-75; and radiology with FEV1 and FEF25-75. General activity was the domain that had the greatest influence on the total S-K score. Conclusions: These two scoring systems are complementary, correlating with each other, as well as with pulmonary function tests. The radiology domain of the S-K scoring system is a good alternative to the Brasfield score.

Keywords: Cystic fibrosis; Spirometry; Lung/radiography.

Objective: To analyze the effects of Pilates mat exercises in patients with cystic fibrosis (CF). Methods: This was a clinical trial involving 19 CF patients recruited from either the CF Outpatient Clinic of the State University at Campinas Hospital de Clínicas or the Children's Institute of the University of São Paulo School of Medicine Hospital das Clínicas. All of the patients performed Pilates mat exercises for four months (one 60-min session per week). The variables studied (before and after the intervention) were respiratory muscle strength, MIP, MEP, FVC, and FEV1. Results: After the intervention, MIP was significantly higher in the male patients (p = 0.017), as were MIP and MEP in the female patients (p = 0.005 and p = 0.007, respectively). There were no significant differences between the pre- and post-intervention values of FVC or FEV1, neither in the sample as a whole nor among the patients of either gender. Conclusions: Our results show that Pilates mat exercises have beneficial effects on respiratory muscle strength in CF patients. (Brazilian Registry of Clinical Trials - ReBEC; identification number RBR-86vp8x [http://www.ensaiosclinicos.gov.br])

Keywords: Cystic fibrosis; Muscle strength; Exercise movement techniques; Respiratory function tests.

Objective: To identify associations between genetic polymorphisms (in the MBL2, TGF-β1 and CD14 genes) and the severity of the lung disease in patients with cystic fibrosis (CF), as well as between the presence of ΔF508 alleles and lung disease severity in such patients. Methods: This was a cross-sectional cohort study, based on clinical and laboratory data, involving 105 patients with CF treated at a university hospital in the 2005-2006 period. We included 202 healthy blood donors as controls for the determination of TGF-β1 and CD14 gene polymorphisms. Polymorphisms in the MBL2 and TGF-β1 genes at codon 10, position +869, were genotyped using the allele-specific PCR technique. The C-159T polymorphism in the CD14 gene was genotyped using PCR and enzymatic digestion. Results: Of the 105 CF patients evaluated, 67 presented with severe lung disease according to the Shwachman score. The MBL2 gene polymorphisms were not associated with disease severity in the CF patients. Analysis of the T869C polymorphism in the TGF-β1 gene showed an association only between TC heterozygotes and mild pulmonary disease. Although patients presenting the TT genotype of the C159T polymorphism in the CD14 gene predominated, there was no significant difference regarding lung disease severity. Conclusions: There was an association between the TC genotype of the T869C polymorphism (TGF-β1) and mild pulmonary disease in CF patients. In the CD14 gene, the TT genotype seems to be a risk factor for pulmonary disease but is not a modulator of severity. We found no association between being a ΔF508 homozygote and presenting severe lung disease.

Keywords: Cystic fibrosis; Polymorphism, genetic; Severity of illness index; Mannose-binding lectin; Transforming growth factor beta.

Objective: To evaluate pulmonary function and functional capacity in children and adolescents with sickle cell disease. Methods: This was a cross-sectional study involving 70 children and adolescents (8-15 years of age) with sickle cell disease who underwent pulmonary function tests (spirometry) and functional capacity testing (six-minute walk test). The results of the pulmonary function tests were compared with variables related to the severity of sickle cell disease and history of asthma and of acute chest syndrome. Results: Of the 64 patients who underwent spirometry, 15 (23.4%) showed abnormal results: restrictive lung disease, in 8 (12.5%); and obstructive lung disease, in 7 (10.9%). Of the 69 patients who underwent the six-minute walk test, 18 (26.1%) showed abnormal results regarding the six-minute walk distance as a percentage of the predicted value for age, and there was a ≥ 3% decrease in SpO2 in 36 patients (52.2%). Abnormal pulmonary function was not significantly associated with any of the other variables studied, except for hypoxemia and restrictive lung disease. Conclusions: In this sample of children and adolescents with sickle cell disease, there was a significant prevalence of abnormal pulmonary function. The high prevalence of respiratory disorders suggests the need for a closer look at the lung function of this population, in childhood and thereafter.

Keywords: Anemia, sickle cell; Respiratory function tests; Exercise test.