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Objective:: The sweat test (ST) measures chloride levels in sweat and is considered the gold standard for the diagnosis of cystic fibrosis (CF). However, the reliability of a ST depends on their being performed by experienced technicians and in accordance with strict guidelines. Our aim was to evaluate how sweat stimulation, sweat collection, and chloride measurement are performed at 14 centers (9 public centers and 5 private centers) that routinely perform STs in the state of São Paulo, which has the highest frequency of CF in Brazil., Methods:: This was a cross-sectional cohort study, using a standardized questionnaire administered in loco to the staff responsible for conducting STs., Results:: No uniformity regarding the procedures was found among the centers. Most centers were noncompliant with the international guidelines, especially regarding the collection of sweat (the samples were insufficient in 10-50% of the subjects tested); availability of stimulation equipment (which was limited at 2 centers); modernity and certification of stimulation equipment (most of the equipment having been used for 3-23 years); and written protocols (which were lacking at 12 centers). Knowledge of ST guidelines was evaluated at only 1 center., Conclusions:: Our results show that STs largely deviate from internationally accepted guidelines at the participating centers. Therefore, there is an urgent need for standardization of STs, training of qualified personnel, and acquisition/certification of suitable equipment. These are essential conditions for a reliable diagnosis of CF, especially with the increasing demand due to newborn screening nationwide, and for the assessment of a possible clinical benefit from the use of modulator drugs., Objetivo:: O teste do suor (TS) mede os níveis de cloro no suor e é considerado o padrão ouro para o diagnóstico da fibrose cística (FC). Contudo, a confiabilidade do TS depende de sua realização por técnicos experientes e segundo diretrizes rígidas. Nosso objetivo foi avaliar como são realizadas a estimulação e coleta do suor e a dosagem de cloro em 14 centros (9 públicos e 5 privados) que realizam TS rotineiramente no estado de São Paulo, que possui a maior frequência de FC do Brasil., Métodos:: Estudo de coorte transversal utilizando um questionário padronizado aplicado in loco ao pessoal responsável pela realização dos TS., Resultados:: Não houve uniformidade entre os centros quanto aos procedimentos. A maioria dos centros não era aderente às diretrizes internacionais, especialmente quanto à coleta do suor (amostras insuficientes em 10-50% dos indivíduos testados), disponibilidade de equipamentos de estimulação (limitada em 2 centros), modernidade e certificação dos mesmos (a maioria utilizada há 3-23 anos) e protocolos escritos (ausentes em 12 centros). Avaliou-se o conhecimento sobre diretrizes para TS em apenas 1 centro., Conclusões:: Nossos resultados mostram que, nos centros participantes, os TS estão muito distantes das diretrizes internacionalmente aceitas. Portanto, há necessidade urgente de padronização dos TS, de treinamento de pessoal qualificado e de aquisição/certificação de equipamentos adequados. Essas são condições essenciais para um diagnóstico confiável de FC, especialmente com a crescente demanda resultante da triagem neonatal em todo o país, e para a avaliação do possível benefício clínico do uso de moduladores.

Objective: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF)., Methods: This was a cross-sectional study involving adolescents and adults aged > 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics., Results: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S., Conclusions: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.

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.

Objectives: To present and analyze the results of the National Neonatal Cystic Fibrosis Screening Program in Paraná, 30 months after its implementation., Methods: This is a descriptive study, with an analysis of the data from the screening of around 98% of all neonates in the period from September 2001 to April 2004, undertaken at the Neonatal Screening Program laboratory of the Fundação Ecumênica de Proteção ao Excepcional do Paraná. Blood samples for the Guthrie test were collected on hospital discharge, ideally between the second and sixth days postpartum, and filter papers were sent for immunoreactive trypsin assay by the immunofluorometric method. Children whose immunoreactive trypsin assay results were > or = 70 ng/ml for two distinct samples during the first 30 days of life, were referred for sweat conductivity testing by the Wescor method. In cases when the result was greater than 50 mMol/l quantitative chlorine and/or sodium in sweat was assayed (iontophoresis with pilocarpine)., Results: From a total of 456,982 tests, 4,028 (0.9%) children presented a first immunoreactive trypsin assay above the cutoff point set. Four hundred and seventy-eight of these (12.5%) also had a second blood sample assayed with immunoreactive trypsin above 70 ng/ml and 56 (11.7%) of these were referred to specialized clinics after their sweat conductivity test results were above 50 mMol/l and 48 (0.01% of the total number of children screened) had a diagnosis of cystic fibrosis confirmed. The incidence for the state of Paraná was 1:9,520, although some children have not yet been fully investigated., Conclusions: Neonatal screening for cystic fibrosis in the State of Paraná, in accordance with Health Ministry directives, was a pioneering initiative for Brazil. Many patients were diagnosed early, even asymptomatic ones, which is a challenge to improving prognosis with this fatal disease.

Background: Cystic fibrosis (CF) is the most common severe autosomal recessive disease in caucasian population. The life expectancy of patients with CF has improved dramatically during the past three decades. A better approach to these patients depends on a better knowledge of clinical course and prognosis of CF. The purpose of the present study was to identify aspects clinical and nutritional on admission at Center of CF (HC-UFMG)., Material and Methods: Over a period of 20 years 127 patients with CF were admitted, submitted to a systematic protocol and prospectively followed. Data associated with demographic conditions, clinical presentation, nutritional and laboratory findings on admission were studied. The median follow-up was 44 months. The genotype was performed by PCR method. The survival analysis was carried out by Kaplan-Meier method., Results: The median age at diagnosis was 33 months. Sixty-one per cent of patients at diagnosis had chronic pulmonary and gastrointestinal symptoms. Seventeen patients (16%) were homozygous for DF508 mutation and 30 (28%) were heterozygous. There was a standard prevalence of malnutrition of 63% at diagnosis and of 45% at the end of follow up. Twenty patients (15,7%) died during follow up. The estimated probability of survival after one year from diagnosis was 96% and after five years was 80%., Conclusions: CF diagnosis has been later in our country and the survival is shorter than in developed countries. Management of cystic fibrosis in pediatric specializing centers results in a better nutritional state in spite of clinical progression of the disease.