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Since the onset of the coronavirus disease, COVID-19 pandemic, concern arose for those who might be at higher risk of a worse COVID-19 prognosis, such as those with cystic fibrosis (CF). In this context, we evaluated the features of hospitalized patients with CF due to severe acute respiratory infection (SARI) in Brazil and we also performed a systematic review including all the studies published from the beginning of the first case of COVID-19 (17 November 2019) to the date of this search (23 May 2022) which included, concomitantly, patients with CF and COVID-19 in the worldwide population. In our Brazilian data, we evaluated the period from December 2019 to March 2022, and we included 33 demographical and clinical patients' features. We classified the patients into groups: (G1) SARI due to another viral infection than severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (23; 5.4%), (G2) SARI due to an unknown etiological agent (286; 67.1%), and (G3) SARI due to SARS-CoV-2 infection (117; 27.5%). The individuals in G3 tended to be older, especially over 50 years old, and presented a higher prevalence of dyspnea, peripheral capillary oxygen saturation (SpO2) <95%, and cardiopathy. The highest prevalence for intensive care unit (ICU) treatment (52; 44.4%) and invasive mechanical ventilation (29; 24.8%) was for patients in G3. Almost half of the patients in G3 died (51; 43.6%); in contrast, none in G1 died. However, we observed 43 (15.0%) deaths in G2. In addition, 12 (4.2%) and one (0.9%) death not associated with SARI occurred, respectively, in the G2 and G3. The patients who died due to SARS-CoV-2 infection had a higher frequency of SpO2 <95% (46; 90.2%), ICU treatment (34; 66.7%), and invasive mechanical ventilation (27; 52.9%) when compared to those who recovered. The systematic review comprised a total of 31 papers published as observational studies. These studies comprised 661,386 patients in total, including children, adults, and elderly age groups. However, only 19,150 (2.9%) patients were diagnosed with CF and, from these patients, 2523 (0.4%) were diagnosed with both CF and COVID-19. It was observed that the most common outcome was the need for hospitalization (n = 322 patients with CF), and the need for oxygen support (n = 139 patients with CF). One hundred patients with CF needed intensive care units, fifty patients needed non-invasive mechanical ventilation support, and only three patients were described as receiving invasive mechanical ventilation support. Deaths were described in 38 patients with CF. Importantly, lung-transplanted patients with CF represented an increased risk of death in one publication; in accordance, another study described that lung transplantation and moderate to severe lung disease were independent risk factors for severe outcomes after SARS-CoV-2 infection. In contrast with the literature, in conclusion, Brazilian patients in G3 presented a severe phenotype, even though most of the other studies did not observe worse outcomes in patients with CF and COVID-19.

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Introdução: a fibrose cística, também conhecida como mucoviscidose, é uma doença genética cujas manifestações resultam da disfunção do gene cystic fibrosis transmembrane conductorance regulator. Cerca de 85% dos indivíduos com essa doença desenvolvem insuficiência pancreática exógena. Objetivo: comparar os custos da terapia de reposição enzimática empírica com a terapia de reposição enzimática empírica guiada pelo teste da elastase fecal, em indivíduos com fibrose cística, acompanhados em um centro de referência para assistência à doença. Metodologia: realizou-se um estudo descritivo e comparativo, que incluiu indivíduos de 0 a 21 anos, com fibrose cística. Coletaram-se dados referentes ao período de janeiro de 2016 a fevereiro de 2020, com registros clínicos, demográficos e laboratoriais. Inicialmente, com base em critérios clínicos, os participantes foram classificados como suficientes pancreáticos ou insuficientes pancreáticos. Após o resultado da dosagem da elastase fecal, o diagnóstico do status pancreático foi reavaliado. Realizouse a estimativa dos custos do teste da elas tase fecal por participante e da terapia por reposição enzimática empírica da insuficiência pancreática em indivíduos que, posteriormente, foram diagnostica dos como suficientes pancreáticos. Resultados: incluíram-se 50 participantes, com média de idade de 9,4 anos, sendo 52% do sexo masculino. Após o resultado da dosagem da elastase fecal, 7 participantes considerados insuficientes pancreáticos e foram reclassificados como suficientes pancreáticos. No período estudado, a economia média estimada, por participante suficiente pancreático, com a suspensão das enzimas, após resultado da elastase fecal, foi de R$ 6.770,13. Conclusão: a terapia de reposição enzimática empírica no tratamento da insuficiência pancreática pode levar a custos desnecessários. A medida de dosagem da elastase fecal contribui para decisão mais objetiva da avaliação da função pancreática.

Introduction: Cystic fibrosis, also known as mucoviscidosis, is a genetic disorder whose manifestations result from dysfunction of the cystic fibrosis transmembrane conductance regulator gene. About 85% of individuals with this disease develop exogenous pancreatic insufficiency. Objetivo: to compare the costs of empirical enzyme replacement therapy with fecal elastase test-guided empirical enzyme replacement therapy in individuals with cystic fibrosis followed up at a referral center for disease care. Methodology: a descriptive and comparative study was carried out, which included individuals aged 0 to 21 years, with cystic fibrosis. Data for the period from January 2016 to February 2020 were collected, with clinical, demographic and laboratory records. Initially, based on clinical criteria, participants were classified as pancreatic sufficient or pancreatic insufficient. After the result of the fecal elastase measurement, the diagnosis of pancreatic status was reassessed. Estimates were made of the costs of the fecal elastase test per participant and of the empiric enzyme replacement therapy for pancreatic insufficiency in individuals who were later diagnosed as pancreatic sufficient. Results: fifty participants were included, with a mean age of 9.4 years, 52% male. After the result of the fecal elastase measurement, 7 participants considered as pancreatic insufficient were reclassified as pancreatic sufficient. In the period studied, the estimated mean savings, per sufficient pancreatic participant, with the suspension of enzymes, after the result of fecal elastase, was R$ 6,770.13. Conclusion: empirical enzyme replacement therapy in the treatment of pancreatic insufficiency can lead to unnecessary costs. The measurement of fecal elastase dosage contributes to a more objective decision on the assessment of pancreatic function.

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BACKGROUND: Scedosporium species are the second most isolated filamentous fungi from cystic fibrosis (CF) patients; however, little is known about their virulence aspects in a CF environment. In this context, the current study aimed to evaluate the (i) antifungal susceptibility profiles, (ii) ability to form biofilm and (iii) impact of biofilm formation on the susceptibility to azoles in 21 clinical isolates of Scedosporium recovered from CF patients. METHODS: Scedosporium apiospermum (n=6), S. aurantiacum (n=6), S. minutisporum (n=3) and Lomentospora prolificans (n=6) were firstly used to compare the antifungal susceptibility profile using a standard culture broth (RPMI-1640) and a mucin (M)-containing synthetic CF sputum medium (SCFM). The ability to form biofilms was investigated in polystyrene microtiter plates containing Sabouraud-dextrose (a classical medium), SCFM and SCFM+M. Mature biofilms were tested for their susceptibility to azoles by microdilution assay. RESULTS: Our results showed that the minimum inhibitory concentrations (MICs) for planktonic conidia ranged from 0.25 to >16.0 mg/L for voriconazole and 1.0 to >16.0 mg/L for posaconazole. Overall, the MICs for azoles increased from 2- to 8-folds when the susceptibility tests were performed using SCFM+M compared to RPMI-1640. All fungi formed robust biofilms on polystyrene surface at 72 h, with a significant increase in the MICs (ranging from 128- to 1024-times) against both azoles compared to the planktonic cells. CONCLUSION: These findings confirm the challenge of antifungal treatment of CF patients infected with Scedosporium/Lomentospora and also demonstrated a strong biofilm formation, with extensive increase in antifungal resistance, triggered underconditions mimicking the CF patient airway.

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Introdução: a fibrose cística é a doença autossômica recessiva mais comum em populações caucasianas e a sua etiologia está associada a variantes patogênicas no gene CFTR. O teste do suor é considerado o padrão ouro para o diagnóstico dessa enfermidade. Estudos apontam que o genótipo do CFTR e a idade dos indivíduos influenciam as concentrações de cloreto no suor. Objetivos: pesquisar a correlação entre os níveis de cloreto no teste do suor e a idade ao diagnóstico de indivíduos com fibrose cística e comparar as concentrações iônicas do cloreto entre os sexos, diferentes faixas etárias e três grupos diversos de genótipos do CFTR. Metodologia: realizou-se um estudo de corte transversal, incluindo sujeitos de 0 a 20 anos, com diagnóstico confirmado de fibrose cística. Os indivíduos selecionados foram agrupados de acordo com as variáveis analisadas. Calcularam-se os valores descritivos das concentrações de íons cloreto de cada grupo. Utilizou-se o teste de Spearman para a análise da correlação entre a idade ao diagnóstico e os níveis de cloreto no suor. Resultados: 64 indivíduos foram incluídos no estudo, sendo 51,56% do sexo masculino. A mediana (Min ­ Max) da idade ao diagnóstico foi de 7 meses (1-206). Não foi observa da correlação entre a idade dos indivíduos ao diagnóstico e os níveis de cloreto no suor. As concentrações medianas de cloreto foram maiores nos escolares (106 mEq/l), no sexo feminino (102 mEq/l) e nos heterozigotos F508del/Classe I a III (108 mEq/l); e menores nos adolescentes (100 mEq/l) e nos heterozigotos F508del/Classes IV a VI (77 mEq/l). Conclusão: os níveis de cloreto no suor não apresentaram correlação com a idade dos indivíduos ao diagnóstico. A variação considerável dos níveis iônicos entre os grupos de diferentes genótipos corrobora que o teste do suor é um bom preditor da avaliação funcional do canal CFTR.

Introduction: cystic fibrosis is the most common autosomal recessive disorder in Caucasian populations and its etiology is associated with pathogenic variants in the CFTR gene. The sweat test is considered the gold standard for the diagnosis of the disease. Some studies suggest that CFTR genotype and age affect sweat chloride concentrations. Objectives: to investigate the correlation between sweat chloride levels and age at diagnosis of individuals with cystic fibrosis and to compare ionic chloride concentrations among sexes, different age groups and three distinct groups of CFTR genotypes. Methodology: a cross-sectional study was conducted, which included CF subjects from 0 to 20 years of age. The selected individuals were clustered on the variables in analysis. The description values for chloride ion concentrations in each group were calculated. The Spearman's test was used to analyze the correlation between the age at diagnosis and sweat chloride levels. Results: 64 individuals were included, 51,56% male. The median (Min ­ Max) age at diagnosis was 7 months (1-206). There was no correlation between the age at diagnosis and sweat chloride levels. The median of the chloride concentrations were higher for schoolchildren (106 mEq/l), females (102 mEq/l) and heterozygous F508del/Classes I to III (108 mEq/l), and reached the lowest values for teenagers (100 mEq/l) and heterozygous F508del/Classes IV to VI (77 mEq/l). Conclusion: sweat chloride levels did not correlate with the age of individuals at diagnosis. The substantial variation of ionic levels among groups of distinct genotypes corroborates that the sweat test is a good predictor for functional assessment of the CFTR channel.

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Introdução: a avaliação e o acompanhamento nutricional fazem parte do cuidado integral dos pacientes com fibrose cística (FC), possibilitando intervenção precoce e tratamento mais efetivo da doença. Objetivo: avaliar o estado antropométrico de crianças e adolescentes com FC e pesquisar sua associação com variáveis clínicas e demográficas. Metodologia: estudo descritivo, incluindo-se indivíduos entre 1-19 anos de idade. Foram registradas medidas de peso, estatura, circunferência do braço (CB) e da prega cutânea tricipital (PCT) e calculados indicadores antropométricos (Peso/Idade- P/I, Altura idade -A/I e IMC/idade-IMC/I) e Circunferência Muscular do Braço (CMB). Comparou-se o indicador CMB com variáveis clínicas e demográficas através do cálculo de razões de prevalência (RP). Resultados: foram incluídos 41 pacientes, 53,6% do sexo masculino, mediana de idade de 78 meses. Quinze (36,6%) pacientes foram classificados como desnutridos pela avaliação da CMB (P15, TRE, mutação F508/del e A/I<-2, observando-se maior associação com as três últimas, RP de 6,25, 3,12; e 2,06; respectivamente. Conclusão: o IMC pode não ser suficiente para a avaliação do estado nutricional na FC, pois subestima a prevalência de desnutrição. Com exceção das infecções respiratórias recorrentes, as demais variáveis tiveram associação com o indicador CMB

Introduction: the assessment and nutritional follow-up are part of the comprehensive care of cystic fibrosis (CF) patients enabling an early intervention and a more effective disease treatment. Objective: to assess the anthropometric status of children and adolescents with cystic fibrosis (CF) and to investigate its association with clinical and demographic variables. Methodology: descriptive study, including individuals between 1-19 years of age. Weight, height, arm circumference (AC) and tricipital skinfold (TSF) measurements were recorded and anthropometric indicators were calculated (Weight/Age-W/A, Height age -H/A and BMI/age-BMI/A) and Muscle Circumference of the Arm (AMC). The AMC indicator was compared with clinical and demographic variables by calculating prevalence ratios (PR). Results: 41 patients were included, 53.6% male, median age 78 months. Fifteen (36.6%) patients were classified as malnourished by the AMC assessment ( P15, TRE, F508del variant and H/A <-2, with a greater association with the last three, PR of 6.25, 3.12; and 2.06; respectively. Conclusions: BMI may not be sufficient to assess nutritional status in CF since it underestimates the prevalence of malnutrition. Except for recurrent respiratory infections, the other variables were associated with the AMC indicator

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O objetivo deste estudo foi proporcionar uma visão sobre a FC e as possíveis formas de tratamento fisioterapêutico. Método: Trata-se de uma revisão de literatura narrativa. Foram usadas as bases de dados eletrônicas: LILACS, SCIELO, PUBMED e MEDLINE a partir do ano de 2008. Na coleta de dados foram usados os seguintes descritores: mucoviscidose, fibrose cística, métodos de avaliação e fisioterapia respiratória. Foram selecionados artigos relacionados a avaliações e tratamento da FC, publicados em português e inglês. Resultados: A fisioterapia respiratória é recomendada para os pacientes com FC por possuir técnicas efetivas para aumento da expectoração de secreção, no entanto ainda se faz necessária a comprovação científica, em longo prazo, dos efeitos de cada técnica. Conclusão: Os tratamentos mais usados e atuais de acordo com os artigos encontrados foram drenagem postural, vibrocompressão, drenagem autogênica, aceleração do fluxo expiratório, expiração lenta total com a glote aberta em decúbito infralateral, máscara de pressão positiva expiratória e exercícios aeróbicos. Sendo elas importantes para amenizar os sinais respiratórios que a mucoviscidose apresenta evitando possíveis complicações pulmonares.

The objective of this study was to provide an insight into CF and the possible forms of physiotherapeutic treatment. Method: It is a narrative review of literature. The electronic databases were used: LILACS, SCIELO, PUBMED and MEDLINE from 2008. In data collection, the following descriptors were used: mucoviscidosis, cystic fibrosis, assessment methods and respiratory physiotherapy. Articles related to CF assessments and treatment, published in Portuguese and English, were selected. Results: Respiratory physiotherapy is recommended for patients with FC for having effective techniques for increasing sputum secretion, however it is still necessary to prove long-term scientific analysis of the effects of each technique. Conclusion: The most used and current treatments according to the articles found were postural drainage, vibrocompression, autogenic drainage, acceleration of expiratory flow, total slow expiration with the open glottis in the infralateral decubitus, positive expiratory pressure mask and aerobic exercises. They are important to mitigate the respiratory signs that mucoviscidosis presents, avoiding possible pulmonary complications..

El objetivo de este estudio fue proporcionar una idea de la FQ y las posibles formas de tratamiento fisioterapéutico. Método: Esta es una revisión de la literatura narrativa. Se utilizaron las bases de datos electrónicas: LILACS, SCIELO, PUBMED y MEDLINE de 2008. En la recopilación de datos, se utilizaron los siguientes descriptores: mucoviscidosis, fibrosis quística, métodos de evaluación y fisioterapia respiratoria. Se seleccionaron los artículos relacionados con las evaluaciones y el tratamiento de la FQ, publicados en portugués e inglés. Resultados: Se recomienda fisioterapia respiratoria para pacientes con FC por tener técnicas efectivas para aumentar el esputo secreción, sin embargo, todavía es necesario demostrar Análisis científico a largo plazo de los efectos de cada técnica. Conclusión: Los tratamientos más utilizados y actuales según los artículos encontrados fueron drenaje postural, vibrocompresión, drenaje autógeno, aceleración del flujo espiratorio, espiración lenta total con glotis abierta en posición de decúbito infralateral, máscara de presión espiratoria positiva y ejercicios aeróbicos. Son importantes para mitigar los signos respiratorios que presenta la mucoviscidosis, evitando posibles complicaciones pulmonares

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Abstract Objectives: The aims of the study were to determine the frequency of hepatobiliary disease in patients with cystic fibrosis and to describe the sociodemographic, clinical, and laboratory profile of these patients. Methods: This was a retrospective, descriptive, and analytical study of 55 patients diagnosed with cystic fibrosis, aged between 3 months and 21 years, followed-up from January 2008 to June 2016 in a referral center. Medical records were consulted and sociodemographic, clinical and laboratory data, including hepatobiliary alterations, imaging studies, genetic studies, liver biopsies, and upper digestive endoscopies were registered. Results: Hepatobiliary disease was diagnosed in 16.4% of the patients and occurred as an initial manifestation of cystic fibrosis in 55.6% of these cases. The diagnosis of hepatopathy occurred before or concomitantly with the diagnosis of cystic fibrosis in 88.9% of the children. All patients with hepatobiliary disease were considered non-white, with a predominance of females (77.8%) and median (IQR) of 54 (27-91) months. Compared with the group without hepatobiliary disease, children with liver disease had a higher frequency of severe mutations identified in the CFTR gene (77.8% vs. 39.6%, p = 0.033) and severe pancreatic insufficiency (88.9% vs. 31.6%, p = 0.007). Conclusion: The frequency of hepatobiliary disease was high, with a very early diagnosis of the disease and its complications in the studied series. A statistical association was observed between the occurrence of hepatobiliary disease and the presence of pancreatic insufficiency and severe mutations in the CFTR gene. It is emphasized that cystic fibrosis is an important differential diagnosis of liver diseases in childhood.

Resumo Objetivos: Os objetivos do estudo foram determinar a frequência da doença hepatobiliar em pacientes com fibrose cística e descrever o perfil sociodemográfico, clínico e laboratorial destes. Métodos: Estudo retrospectivo, descritivo e analítico de 55 pacientes com diagnóstico de fibrose cística, entre três meses e 21 anos, acompanhados de janeiro de 2008 a junho de 2016 em um centro de referência. Foi realizada consulta aos prontuários médicos, registrando-se os dados sociodemográficos, clínicos e laboratoriais, incluindo-se alterações hepatobiliares, exames de imagem, estudos genéticos, biópsias hepáticas e endoscopias digestivas altas. Resultados: A doença hepatobiliar foi diagnosticada em 16,4% dos pacientes e ocorreu como manifestação inicial da fibrose cística em 55,6% destes casos. O diagnóstico da hepatopatia ocorreu antes ou concomitante ao diagnóstico da fibrose cística em 88,9% das crianças. Todos os pacientes com doença hepatobiliar foram considerados não brancos, havendo predominância do sexo feminino (77,8%) e mediana (I.I.Q) de idade de 54 (27-91) meses. Em comparação com o grupo sem doença hepatobiliar, as crianças com hepatopatia tiveram maior frequência de mutações graves no gene CFTR identificadas (77,8% vs 39,6%; p = 0,033) e de insuficiência pancreática grave (88,9% vs 31,6%; p = 0,007). Conclusão: A frequência de doença hepatobiliar foi elevada, observando-se um diagnóstico muito precoce da mesma e de suas complicações na casuística estudada. Houve associação estatística entre a ocorrência de doença hepatobiliar e a presença de insuficiência pancreática e de mutações graves do gene CFTR. Enfatiza-se que a fibrose cística represente um importante diagnóstico diferencial de hepatopatias na infância.

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Knowledge of the genetic profile of Cystic Fibrosis (CF) contributes to a better understanding of the genotype/phenotype relationship, particularly in mixed populations such as in Brazil. To describe clinical data of CF patients with rare or not yet observed CFTR gene mutations in Brazil. It was a case series of CF patients followed-up at a referral center. Clinical and laboratory data were obtained through medical records. Molecular analysis of the mutations was performed by conventional methods and/or by next-generation sequencing. Ten patients were studied, seven had five pathogenic mutations without previous description in Brazil (Q1100P, Y109C, A107P, E1409K and K162E), one of which has not yet been reported in patients with CF (A107P). Among the seven patients, three (two siblings) had the second mutant allele of rare occurrence among Brazilians patients (G1069R and 2307insA). Three other patients also had at least one rare variant (V201M, S466X and G1069R). The age of the CF diagnosis ranged from 1 to 190 months in the ten cases and the main clinical manifestations were respiratory symptoms and difficulty in gaining weight. All but one patient presented clinical and/or laboratory data compatible with pancreatic insufficiency. The identification of rare or not yet described CFTR mutations in patients with CF in Brazil highlights the high genetic heterogeneity in this population. Knowledge of the genotypic profile of Brazilian CF patients can contribute to the development of specific mutation panels for the genetic investigation targeting each region of the country, as well as helping to understand the complex genotype/phenotype relationship, especially in mixed populations.

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OBJECTIVES: The aims of the study were to determine the frequency of hepatobiliary disease in patients with cystic fibrosis and to describe the sociodemographic, clinical, and laboratory profile of these patients. METHODS: This was a retrospective, descriptive, and analytical study of 55 patients diagnosed with cystic fibrosis, aged between 3 months and 21 years, followed-up from January 2008 to June 2016 in a referral center. Medical records were consulted and sociodemographic, clinical and laboratory data, including hepatobiliary alterations, imaging studies, genetic studies, liver biopsies, and upper digestive endoscopies were registered. RESULTS: Hepatobiliary disease was diagnosed in 16.4% of the patients and occurred as an initial manifestation of cystic fibrosis in 55.6% of these cases. The diagnosis of hepatopathy occurred before or concomitantly with the diagnosis of cystic fibrosis in 88.9% of the children. All patients with hepatobiliary disease were considered non-white, with a predominance of females (77.8%) and median (IQR) of 54 (27-91) months. Compared with the group without hepatobiliary disease, children with liver disease had a higher frequency of severe mutations identified in the CFTR gene (77.8% vs. 39.6%, p=0.033) and severe pancreatic insufficiency (88.9% vs. 31.6%, p=0.007). CONCLUSION: The frequency of hepatobiliary disease was high, with a very early diagnosis of the disease and its complications in the studied series. A statistical association was observed between the occurrence of hepatobiliary disease and the presence of pancreatic insufficiency and severe mutations in the CFTR gene. It is emphasized that cystic fibrosis is an important differential diagnosis of liver diseases in childhood.

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OBJETIVO: Verificar a presença da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator na população de pacientes com fibrose cística, diagnosticados pelo teste de sódio e cloro no suor, em acompanhamento no Ambulatório de Pneumologia Pediátrica da Universidade Estadual de Campinas, centro de referência no tratamento da fibrose cística. MÉTODOS: Foram analisadas 167 amostras de DNA de pacientes com fibrose cística. O genótipo dos pacientes foi determinado pela técnica de reação da polimerase e realizado cálculo para a frequência dos alelos e genótipos da mutação ΔF508. RESULTADOS: A frequência genotípica encontrada foi, respectivamente, para os genótipos -/-, ΔF508/- e ΔF508/ΔF508: 43,7% (73 pacientes), 32,9% (55 pacientes) e 23,4% (39 pacientes). Do total de 334 alelos analisados, foi observada a frequência de 201 (60,18%) alelos para a ausência da mutação ΔF508 e de 133 (39,82%) para a presença da mutação ΔF508. O cálculo do equilíbrio de Hardy-Weinberg foi realizado, e obtivemos o valor de qui-quadrado = 16,34 (p < 0,001). A população analisada está fora do equilíbrio. Os valores esperados são, para os respectivos genótipos -/-, ΔF508/- e ΔF508/ΔF508: 32,22% (60,48 pacientes), 47,93% (80,04 pacientes) e 15,86% (26,48 pacientes). CONCLUSÕES: Na população analisada, a mutação ΔF508 se mostrou menos prevalente em relação ao alelo sem a mutação. A frequência encontrada neste estudo foi semelhante à de outras regiões do Brasil e do mundo, principalmente devido à origem predominantemente caucasoide da população incluída no estudo.

OBJECTIVE: To verify the presence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among patients with cystic fibrosis diagnosed by the sweat test for sodium and chlorine and followed at the Pediatric Pneumology Outpatient Clinic of Universidade Estadual de Campinas, Brazil, a referral center for the treatment of cystic fibrosis. METHODS: The study analyzed 167 DNA samples from cystic fibrosis patients. Patients' genotype was determined by polymerase chain reaction, and allele and genotype frequencies of ΔF508 mutation were calculated. RESULTS: The genotype frequencies found for -/-, ΔF508/-, and ΔF508/ΔF508 genotypes were respectively: 43.7% (73 patients), 32.9% (55 patients), and 23.4% (39 patients). Of the 334 alleles analyzed, we observed a frequency of 201 (60.18%) alleles for the absence of ΔF508 mutation and of 133 (39.82%) for the presence of ΔF508 mutation. Hardy-Weinberg equilibrium was calculated, obtaining a chi-square value = 16.34 (p < 0.001). The study population was out of equilibrium. The expected values for -/-, ΔF508/-, and ΔF508/ΔF508 genotypes were respectively: 32.22% (60.48 patients), 47.93% (80.04 patients), and 15.86% (26.48 patients). CONCLUSIONS: In the analyzed population, ΔF508 mutation was less prevalent than the allele without this mutation. The frequency observed in this study was similar to that from other areas in Brazil and in the world, mainly due to the predominantly Caucasian origin of the population included in the study.

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Fibrose cística é uma doença multissistêmica e complexa, que exige tratamento contínuo. A doença pulmonar é o principal determinante da sua evolução. Alterações na composição da secreção das vias aéreas levam ao desenvolvimento de doença pulmonar progressiva com infecção respiratória crônica por germes peculiares à doença. Esquemas de antibioticoterapia para tratamento das exacerbações pulmonares, erradicação de bactérias ou de supressão da infecção crônica constituem parte importante do tratamento, com repercussão significativa na melhora dos sintomas, da função pulmonar e da qualidade de vida dos pacientes com fibrose cística.

Cystic fibrosis is a complex multisystemic disease that requires lifelong treatment. Pulmonary disease is the major prognostic determinant. The altered airway surface liquid leads to the development of progressive pulmonary disease with chronic respiratory infection by specific germs. Antibiotic strategies for treatment of pulmonary disease exacerbations, bacterial eradication or chronic infection suppression play an important role in the treatment, contributing to the improvement of symptoms, lung function and the quality of life of Cystic Fibrosis patients.

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RESUMO

A fibrose cística, que já foi considerada uma doença da infância, é agora também uma doença do adulto. O aumento da longevidade resultou em mais problemas médicos relacionados com a idade e com a própria doença. O crescente número de adultos com fibrose cística resultou em aumento da necessidade de cuidados médicos. Essa necessidade tem sido suprida por um crescente número de pneumologistas de adultos e outros especialistas. O objetivo dessa revisão é sumarizar o conhecimento corrente sobre o diagnóstico e tratamento no adulto com fibrose cística. Na maioria dos casos, o diagnóstico é sugerido por manifestações de doença sinopulmonar crônica e insuficiência pancreática exócrina, e, então, confirmado por um teste do suor positivo. Pacientes adultos podem, entretanto, apresentar suficiência pancreática e características clínicas atípicas, às vezes, associadas com teste do suor normal ou limítrofe. Em tais casos, a possibilidade de realizar pesquisa de mutações para fibrose cística e de medir a diferença de potencial nasal pode ser de utilidade diagnóstica. A abordagem terapêutica padrão para a doença pulmonar inclui: antibióticos, higiene das vias aéreas, exercício, mucolíticos, broncodilatadores, oxigênio, agentes anti-inflamatórios e suporte nutricional. A utilização adequada dessas terapias resulta em mais pacientes com fibrose cística sobrevivendo na vida adulta com uma aceitável qualidade de vida.

Once considered a childhood disease, cystic fibrosis is now also a disease of adults. Increased longevity has resulted in the aging of the cystic fibrosis population. The consequent age-related medical problems among adults with cystic fibrosis have increased medical care needs. These needs are being met by a growing number of non-pediatric pulmonologists and other non-pediatric specialists. The objective of this review was to summarize the current knowledge about diagnosis and treatment in adult cystic fibrosis. In most cases, the diagnosis is suggested by manifestations of chronic sinopulmonary disease and exocrine pancreatic insufficiency. The diagnosis is confirmed by a positive sweat test result. Adult patients may, however, present pancreatic sufficiency and atypical clinical features, sometimes in combination with normal or borderline sweat test results. In such cases, identifying cystic fibrosis mutations and measuring nasal potential difference can have diagnostic utility. The standard therapeutic approach to pulmonary disease includes the use of antibiotics, airway clearance, exercise, mucolytics, bronchodilators, oxygen therapy, anti-inflammatory agents and nutritional support. Appropriate application of these therapies results in most cystic fibrosis patients surviving into adulthood with an acceptable quality of life.

Assuntos