Objective: To assess airway hyperresponsiveness to 4.5% hypertonic saline solution in comparison to that obtained through challenge with other bronchoconstriction agents and in relation to patient allergic sensitization. Methods: A cross-sectional, experimental study was conducted, initially involving 85 subjects. After exclusions, the final sample consisted of 62 patients, divided into two groups: a study group of those with asthma (n = 45) and a control group of those with no asthma or allergies (n = 17). Hypertonic saline was nebulized using an ultrasonic nebulizer and administered successively for 0.5, 1, 2, 4 and 8 minutes until a drop in forced expiratory volume in one second of = 15% was achieved in relation to the baseline value. The level of specific immunoglobulin E to Dermatophagoides pteronyssinus level was determined by ImmunoCAP assay and was considered positive when > 0.35 kU/L. Results: In the 36 asthma group subjects presenting a response, the mean drop in forced expiratory volume in one second after hypertonic saline nebulization was 27.4%. None of control group subjects (immunoglobulin E < 0.35 kU/L) presented a positive response to hypertonic saline. The mean forced expiratory volume in one second for control group subjects was 9%. The results of a bronchial provocation test were negative in 9 of the asthma group subjects. The frequency of bronchial provocation test positivity was higher in the subjects presenting elevated levels of specific immunoglobulin E, indicating that there is a relationship between bronchial hyperresponsiveness and the level of specific immunoglobulin E. The sensitivity and specificity of the test were 80% and 92%, respectively. Conclusion: Bronchial provocation with hypertonic saline presents satisfactory sensitivity and specificity. Therefore, in addition to being a low cost procedure that requires very little equipment, it is a useful means of assessing hyperresponsiveness in children and adolescents.

Keywords: Bronchial provocation tests; Bronchial hyperreactivity; Saline solution, hypertonic; Administration, inhalation;

Plastic bronchitis (PB), although a rare cause of airway obstruction, has mortality rates up to 50% in children after Fontan-type cardiac surgery. We present the case of an 18-month-old female patient with PB following pneumonia. At 6 months of age, the patient underwent the Glenn procedure due to functionally univentricular heart. Fiberoptic bronchoscopy revealed complete blockage of the left bronchus by mucoid casts. Pharmacotherapy consisted of glucocorticosteroids, azithromycin, and enalapril maleate. The child also received nebulized 3% NaCl solution, which proved to be beneficial. In children submitted to Fontan-type procedures, physicians must be alert for PB, which can be triggered by respiratory tract infection.

Keywords: Bronchitis; Heart defects, congenital; Saline solution, hypertonic.

Objective: To identify this vagal reflex using bronchial provocation tests in patients with gastroesophageal reflux disease. Methods: The study group was composed of 10 patients presenting endoscopic evidence of hiatal hernia or gastroesophageal reflux disease, and the control group consisted of 11 patients presenting no evidence of either condition. All subjects were submitted to bronchial provocation with carbachol. Results: The provocation test was positive in 5 (50%) of the study group patients and 3 (27%) of the control group patients (p = 0.64). Conclusion: The hypothesis that the airways of patients with gastroesophageal reflux disease (and no history of asthma-like respiratory symptoms) might be more responsive than those of individuals without the disease remains unproven.

Keywords: Asthma/complications; Gastroesophageal reflux/complications; Hernia hiatal; Peak expiratory flow rate; Bronchial hyperreactivity; Forced expiratory volume; Carbachol/diagnostic use

Objective: To evaluate quality of life according to the level of asthma control and degree of asthma severity in children and adolescents. Methods: We selected children and adolescents with asthma (7-17 years of age) from the Pediatric Pulmonology Outpatient Clinic of the State University of Campinas Hospital de Clínicas, located in the city of Campinas, Brazil. Asthma control and asthma severity were assessed by the Asthma Control Test and by the questionnaire based on the Global Initiative for Asthma, respectively. The patients also completed the Paediatric Asthma Quality of Life Questionnaire (PAQLQ), validated for use in Brazil, in order to evaluate their quality of life. Results: The mean age of the patients was 11.22 ± 2.91 years, with a median of 11.20 (7.00-17.60) years. We selected 100 patients, of whom 27, 33, and 40 were classified as having controlled asthma (CA), partially controlled asthma (PCA), and uncontrolled asthma (UA), respectively. As for asthma severity, 34, 19, and 47 were classified as having mild asthma (MiA), moderate asthma (MoA), and severe asthma (SA), respectively. The CA and the PCA groups, when compared with the NCA group, showed higher values for the overall PAQLQ score and all PAQLQ domains (activity limitation, symptoms, and emotional function; p < 0.001 for all). The MiA group showed higher scores for all of the PAQLQ components than did the MoA and SA groups. Conclusions: Quality of life appears to be directly related to asthma control and asthma severity in children and adolescents, being better when asthma is well controlled and asthma severity is lower.

Keywords: Asthma; Quality of life; Child; Adolescent.

Objective: To compare children/adolescents with mild or moderate asthma and healthy subjects in terms of respiratory muscle strength, correlating it with spirometric variables in the former group. Methods: This was a cross-sectional study involving individuals 6-16 years of age and clinically diagnosed with mild/moderate asthma, together with a group of healthy, age- and gender-matched subjects. We determined spirometric values, as well as MIP and MEP, and we selected three reproducible measurements (variation < 10%). Results: We evaluated 75 patients with asthma and 90 controls. The mean age was 10.0 ± 2.6 years. There were no statistically significant differences between the controls and the asthma group regarding MIP (−89.7 ± 26.7 cmH2O vs. −92.2 ± 26.3 cmH2O; p = 0.541) or MEP (79.2 ± 22.9 cmH2O vs. 86.4 ± 24.0 cmH2O; p = 0.256). The groups were subdivided by age (children and adolescents: 6-12 and 13-16 years of age, respectively). Within the asthma group, there was a significant difference between the child and adolescent subgroups in terms of MEP (74.1 ± 24.1 cmH2O vs. 92.1 ± 21.9 cmH2O; p < 0.001) but not MIP (p = 0.285). Within the control group, there were significant differences between the child and adolescent subgroups in terms of MIP (−79.1 ± 17.7 cmH2O vs. −100.9 ± 28.1 cmH2O; p < 0.001) and MEP (73.9 ± 18.7 cmH2O vs. 90.9 ± 28.1cmH2O; p < 0.001). In the asthma group, spirometric variables did not correlate with MIP or MEP. Conclusions: In our sample, asthma was found to have no significant effect on respiratory muscle strength.

Nonadherence to inhaled corticosteroid therapy is common and has a negative effect on clinical control, as well as increasing morbidity rates, mortality rates and health care costs. This review was conducted using direct searches, together with the following sources: Medline; HighWire; and the Latin American and Caribbean Health Sciences Literature database. Searches included articles published between 1992 and 2008. The following methods of assessing adherence, listed in ascending order by degree of objectivity, were identified: patient or family reports; clinical judgment; weighing/dispensing of medication, electronic medication monitoring; and (rarely) biochemical analysis. Adherence rates ranged from 30 to 70%. It is recognized that the degree of adherence determined by patient/family reports or by clinical judgment is exaggerated in comparison with that obtained using electronic medication monitors. Physicians should bear in mind that true adherence rates are lower than those reported by patients, and this should be considered in cases of poor clinical control. Weighing the spray quantifies the medication and infers adherence. However, there can be deliberate emptying of inhalers and medication sharing. Pharmacies provide the dates on which the medication was dispensed and refilled. This strategy is valid and should be used in Brazil. The use of electronic medication monitors, which provide the date and time of each triggering of the medication device, although costly, is the most accurate method of assessing adherence. The results obtained with such monitors demonstrate that adherence was lower than expected. Physicians should improve their knowledge on patient adherence and use accurate methods of assessing such adherence.

Keywords: Patient compliance; Asthma/therapy; Asthma/prevention & control.

Objective: To determine the clinical characteristics and the predictors of hospital admission due to asthma among children and adolescents with asthma under treatment at a referral center. Methods: A retrospective cohort study comprising 151 children and adolescents with asthma, referred from the Unified Health Care System and enrolled in the Asthma and Allergic Rhinitis Control Program in the city of Feira de Santana, Brazil, followed for a period of 12 months and receiving asthma medication at no cost. The chi-square test was used in order to determine the associations between the studied variables and the occurrence of hospital admissions, whereas the Mann-Whitney test was used for the comparison between the groups of hospitalized patients and nonhospitalized patients. The level of significance was set at p < 0.05. Univariate analysis with logistic regression was performed in order to determine the predictors of hospital admission. Results: Of the 151 patients evaluated, 8 (5.2%) were hospitalized, in a total of 12 hospital admissions. In the univariate analysis, the only variable found to be a predictive factor was greater asthma severity (OR = 13.3; 95% CI: 2.55-70.1). Conclusions: The fact that, in our study sample, the principal predictor of hospital admission was greater asthma severity, calls for special attention being given to the care of these patients.

Keywords: Asthma; Hospitalization; Health services.

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.

Background: Several factors influence the pulmonary function values considered normal. In children of short stature, there are difficulties in interpreting the pulmonary function. Objective: To assess spirometric values in children and adolescents with short stature and to identify a correction factor to adequately predict the expected values for this population. Method: A prospective selection of 77 patients was made, all with short stature and no respiratory disease. These patients were submitted to spirometry, transcutaneous hemoglobin oxygen saturation, chest perimeter measurement, and immediate hypersensitivity testing. Bone age was assessed by wrist X-rays. The data obtained by spirometry (FVC, FEV1, and FEF25-75%) were compared with those of Polgar and Promadhat (1971), predicted in three ways: a) by actual height; b) by height estimated at the 50th percentile for chronological age (CA); c) by height estimated at the 50th percentile for bone age (BA). Results: The mean height was 133.3 ± 13.2 cm, and the deficit in relation to the third percentile was 5.4 ± 6.0 cm. The values obtained for FVC, FEV1, FEF25-75%, were significantly higher than those predicted by actual height. The mean FEV1 obtained was 2.42 ± 0.71 L, and the predicted (actual height) was 2.10 ± 0.64 L; according to the height estimated by BA and CA, the values were 2.27 and 2.86 L, respectively. The mean FVC1 was 2.20 ± 0.6 L, and the predicted was 1.90 ± 0.55 L. With the height estimated for bone age and chronologic age, the predicted values were 2.10 and 2.60 L, respectively. Conclusion: Children and adolescents with short stature have higher spirometric values than predicted for their actual height. These findings suggest that the height estimated at the 50th percentile for bone age can be used to evaluate pulmonary function.

Keywords: Lung function. Short stature.

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.

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.

Background: In recent decades, the prevalence of asthma has increased. Objectives: To determine the prevalence of asthma symptoms in children and adolescents from 2 to 14 years of age living in Porto Alegre (in the state of Rio Grande do Sul, Brazil) and to determine any potential correlations with socioeconomic profile, treatment and smoking in the home. Methods: A transversal study based on interviews of all families seeking medical attention in June of 2000. Results: The prevalence of asthma symptoms was 49.5%. In 66.8% of families, total income was less than four times the minimum wage, and in more than 50% of homes, the parents had had less than five years of schooling. In 98.5%, prophylactic asthma treatment was not used. In the 174 families studied, 38.7% of mothers and 43.7% of fathers were smokers (32.7% overall). Correlations were found between the following variables: exposure to smoking in the home and number of asthma attacks in the last year (p = 0.02; RR = 2.9; CI: 1.1 - 4.5); maternal level of education and number of attacks in the last year (p = 0.03; RR = 2.03; CI: 1.01 - 4.19); close living quarters and number of attacks in the last year among children exposed to second-hand smoke (p = 0.04; RR = 2.7; CI: 1.4 - 5.1); hospitalization and number of attacks in the last year (p = 0.004; RR = 1.46; CI: 1.15 -1.86); hospitalization and close living quarters (p = 0.03; RR = 1.47; CI: 1.15 -1.86). In children below the age of five, there was correlation between maternal smoking and number of attacks in the last year (p = 0.03; RR = 1.79; CI: 1.04 - 3.08). Conclusion: The prevalence of asthma symptoms was high. The community studied has limited socioeconomic resources, and there is therefore a lack of adequate treatment for asthma. Our results demonstrate the need for prioritized, standardized treatment programs that would give healthcare workers access to the appropriate materials and means of evaluation necessary for asthma control.

Keywords: Key words: Asthma. Prevalence. Smoking in the home. Treatment between episodes of asthma.

Introduction: During the period from 1970 to 1992, mortality from asthma in children and young adults increased in Rio Grande do Sul. The present study aimed at assessing this phenomenon in patients of the same age group, now extending the time period to 1998. Methods: The death certificates of 157 patients aged between 5 and 19 years in which asthma was reported to be the cause of death during 1970-80 were reviewed. Testing for trends was conducted using the log-linear, S-curve, and quadratic models. Results: Asthma mortality rate ranged from 0.04 to 0.399/100,000. Among the tested models, S curve trend model showed the best accuracy for the adjusted time series: r2=0.59; mean absolute percentage error (MAPE) = 23.48; mean absolute deviation (MAD) = 0.035; mean square deviation (MSD) = 0.0021. These results suggest that a plateau has probably been reached. The quadratic model also showed good accuracy values suggesting that a decrease in the coefficients probably started to occur. In this model, the estimated maximal point value was found in the 25th year (1994). Conclusions: Stabilization of asthma death rates is starting to occur in Rio Grande do Sul and it is likely that a decrease will take place.

Keywords: Asthma. Mortality. Brazil.

Objective: To analyze the prevalence of asthma and asthma symptoms in students of two distinct age brackets residing in the city of Tangará da Serra, Brazil. Methods: Cross-sectional, population-based study of the prevalence of asthma in children from 6 to 7 years of age and adolescents from 13 to 14, using the standardized International Study of Asthma and Allergies in Childhood, phase 1 questionnaire, validated for use in Brazil. Students who responded affirmatively to question 2 (presence of wheezing in the preceding 12 months) were classified as suffering from asthma. Results: The study comprised 3,362 students, of whom 1,634 (48.6%) were children and 1,728 (51.4%) were adolescents. Of the 1,634 children, 816 (49.9%) were male and 818 (50.1%) were female. Of the 1,728 adolescents, 773 (45.0%) were male and 955 (55.0%) were female. The prevalence of asthma among the children was 25.2%, whereas that among the adolescents was 15.9% (χ2 = 8.34; p = 0.00). The children presented higher prevalences of the following symptoms of asthma than did the adolescents: wheezing ever (54.3%), nocturnal dry cough (43.9%), wheezing in the preceding 12 months (25.2%), and from 1 to 3 attacks of wheezing in the preceding 12 months (19.1%). There were no differences between the two groups regarding physician-diagnosed asthma (approximately 4.5%). There were no statistical differences regarding the prevalence of asthma by gender in the two groups. Conclusions: Tangará da Serra has a high prevalence of asthma in children and adolescents, and this result is compatible with other studies carried out in Brazil and Latin America using the same methodology.

Keywords: Asthma/epidemiology; Child; Adolescent.

The objective of this study was to review the literature on bronchoalveolar lavage fluid cell profiles in healthy children and adolescents, as well as on the use of BAL as a diagnostic and follow-up tool for lung disease patients in this age bracket. To that end, we used the Medline database, compiling studies published between 1989 and 2009 employing the following MeSH descriptors (with Boolean operators) as search terms: bronchoalveolar lavage AND cytology OR cell AND child. In healthy children, the cell profile includes alveolar macrophages (> 80%), lymphocytes (approximately 10%), neutrophils (approximately 2%) and eosinophils (< 1%). The profile varies depending on the disease under study. The number of neutrophils is greater in wheezing children, especially in non-atopic children, as well as in those with pulmonary infectious and inflammatory profiles, including cystic fibrosis and interstitial lung disease. Eosinophil counts are elevated in children/adolescents with asthma and can reach high levels in those with allergic bronchopulmonary aspergillosis or eosinophilic syndromes. In a heterogenous group of diseases, the number of lymphocytes can increase. Evaluation of the BAL fluid cell profile, when used in conjunction with clinical and imaging findings, has proven to be an essential tool in the investigation of various lung diseases. Less invasive than transbronchial and open lung biopsies, BAL has great clinical value. Further studies adopting standard international protocols should be carried out. Such studies should involve various age groups and settings in order to obtain reference values for BAL fluid cell profiles, which are necessary for a more accurate interpretation of findings in children and adolescents with lung diseases.

Keywords: Bronchoalveolar lavage; Bronchoalveolar lavage fluid/cytology; Child; Adolescent.

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.

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