Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening program for CF has broad coverage, and most of the Brazilian states have referral centers for the follow-up of individuals with the disease. Previously, CF was limited to the pediatric age group. However, an increase in the number of adult CF patients has been observed, because of the greater number of individuals being diagnosed with atypical forms (with milder phenotypic expression) and because of the increase in life expectancy provided by the new treatments. However, there is still great heterogeneity among the different regions of Brazil in terms of the access of CF patients to diagnostic and therapeutic methods. The objective of these guidelines was to aggregate the main scientific evidence to guide the management of these patients. A group of 18 CF specialists devised 82 relevant clinical questions, divided into five categories: characteristics of a referral center; diagnosis; treatment of respiratory disease; gastrointestinal and nutritional treatment; and other aspects. Various professionals working in the area of CF in Brazil were invited to answer the questions devised by the coordinators. We used the PubMed database to search the available literature based on keywords, in order to find the best answers to these questions.

We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosis (CF). Screening of mutations in 320 CF chromosomes was performed through single strand conformation polymorphism (SSCP) and heteroduplex analyses assay followed by DNA sequencing of the 27 exons and exon/intron boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of CFTR variants of T-tract length of intron 8 (IVS8 Tn) was also investigated. This analysis enabled the detection of 232/320 CF mutations (72.2%) and complete genotyping of 61% of the patients. The deltaF508 mutation was found in 48.4% of the alleles. Another fifteen mutations (previously reported) were detected: G542X, R1162X, N1303K, R334W, W1282X, G58E, L206W, R553X, 621+1G-->T, V232D, 1717-1G-->A, 2347 delG, R851L, 2789+5G-->A, and W1089X. Five novel mutations were identified, V201M (exon 6a), Y275X (exon 6b), 2686 insT (exon 14a), 3171 delC (exon 17a), and 3617 delGA (exon 19). These results contribute to the molecular characterization of CF in the Brazilian population. In addition, the identification of the novel mutation Y275X allowed prenatal diagnosis in a high-risk fetus.

No abstract

Objective: Home nebulizers are routinely used in the treatment of patients with cystic fibrosis (CF). This study aims to evaluate the contamination of nebulizers used for CF patients, that are chronically colonized by Pseudomonas aeruginosa, and the association of nebulizer contamination with cleaning, decontamination and drying practices. Methods: A cross-sectional, observational, multicenter study was conducted in seven CF reference centers in Brazil to obtain data from medical records, structured interviews with patients/caregivers were performed, and nebulizer’s parts (interface and cup) were collected for microbiological culture. Results: overall, 77 CF patients were included. The frequency of nebulizer contamination was 71.6%. Candida spp. (52.9%), Stenotrophomonas maltophilia (11.9%), non-mucoid P. aeruginosa (4.8%), Staphylococcus aureus (4.8%) and Burkholderia cepacia complex (2.4%) were the most common isolated pathogens. The frequency of nebulizers’ hygiene was 97.4%, and 70.3% of patients reported cleaning, disinfection and drying the nebulizers. The use of tap water in cleaning method and outdoor drying of the parts significantly increased (9.10 times) the chance of nebulizers’ contamination. Conclusion: Despite the high frequency hygiene of the nebulizers reported, the cleaning and disinfection methods used were often inadequate. A significant proportion of nebulizers was contaminated with potentially pathogenic microorganisms for CF patients. These findings support the need to include patients/caregivers in educational programs and / or new strategies for delivering inhaled antibiotics.

IntroduçãoFibrose cística (FC) é doença autossômica recessiva letal, a mais comum afeta populações caucasóides, cuja incidência varia de um para cada 2000 ou 3000 nascimentos em vários países: um indivíduo em cada 25 nestas populações é portador assintomático do gene. É menos freqüente em negros, um para 17.000, e rara em asiáticos, um para 90.000, na população americana 1,2 .Seu diagnóstico é sugerido pelas características clíni-cas de doença pulmonar obstrutiva crônica, colonização pulmonar persistente (particularmente com cepas mucói-des de Pseudomonas), íleo meconial, insuficiência pancreática com prejuízo do desenvolvimento ou história familiar da doença. Na presença dessas, o diagnóstico é confirmado por concentração de cloro no suor maior que 60 mEq/ L ou pela mutação FC patológica nos cromossomos. Marcos HistóricosDeve-se a Landsteiner a primeira descrição anátomo-patológica da FC em recém-nascido falecido no quinto dia de vida por Íleo Meconial, feita em 1905 3 .Em 1936, Fanconi descreveu o caso de criança portadora de síndrome celíaca com alterações pancreáticas que, em sua opinião, diferia da doença celíaca clássica, pois apresentava sintomas pulmonares e intestinais, em cuja necrópsia, encontraram-se bronquiectasias e fibrose císti-ca do pâncreas 4 . ResumoObjetivo: Devido aos grandes avanços recentes no tratamento da fibrose cística e à necessidade de maior conhecimento da doença pelos pediatras, os autores se propõem a fazer uma revisão extensa sobre o assunto.Material e Métodos: Foram selecionados os trabalhos científi-cos mais relevantes na literatura médica internacional em relação ao tema, no sentido de se obterem informações completas e atualizadas sobre o mesmo.Resultados: Foi elaborada uma revisão extensa sobre fibrose cística abordando os seguintes tópicos: introdução, marcos históri-cos, genética, fisiopatogenia, microbiologia das infecções pulmonares, manifestações clínicas, critérios clínicos e laboratoriais do diagnóstico, diagnóstico diferencial, tratamento e prognóstico. J. pediatr. (Rio J.). 1998; 74 (Supl.1): S76-S94:fibrose cística, mucoviscidose, diagnóstico, tratamento, prognóstico, fatores de risco. AbstractObjective: Due to the great advances recently achieved in the treatment of Cystic Fibrosis as well as to the fact that pediatricians need to have a better understanding of this disease, the authors propose an extensive review of the subject.Methods: We selected the most outstanding publications on Cystic Fibrosis in the international literature of the recent years, with the purpose of being up-to-date and at the same time offering a practical synthesis for the readers.Results: We elaborated an extensive review about Cystic Fibrosis covering the following topics: historical remarks, genetics, physiopathogenesis, microbiology of pulmonary infections, clinical manifestations, clinical and laboratorial criteria for diagnosis, differential diagnosis, treatment and prognosis.J. pediatr. (Rio J.). 1998; 74 (Supl.1): S76-S94: cystic fibrosis, mucoviscidosis, diagnosis, treatment, pro...