Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis.

OBJECTIVE: As aerobic exercise capacity, as defined by VO2max, is associated with patient functioning and possibly prognosis in cystic fibrosis (CF), correlations between VO2max phenotype and genotype may be of value. DESIGN: Retrospective clinical series. SETTING: Cystic fibrosis referral clinic. PATIENTS: Convenience sample of 35 patients with CF consecutively referred for exercise testing. MAIN OUTCOME MEASURES: Blood samples were examined for mutations of cystic fibrosis transmembrane regulator (CFTR), Height, wight, pulmonary function, resting-energy expenditure, VO2max, and other exercise variables were assessed in each referred patient. RESULTS: Statistical comparison of 10 patients who were homozygous for the dF508 mutation of CFTR with 20 patients heterozygous for dF508 revealed no significant differences for height, weight, pulmonary function, resting-energy expenditure, VO2max, or any other exercise variables. CONCLUSIONS: These results imply a limited effect of the mutation status on overall patient functioning and prognosis. Future identification of more rare CFTR mutations and other genes and subsequent classification of patients in a manner reflective of the cellular physiology may lead to different results.

Impact of CF summer camp.

In two consecutive years, patients with cystic fibrosis were studied at the beginning and end of a nine-day summer camp program to assess the program's effects on weight gain and pulmonary function. The camp experience includes daily exercise and a high-protein and high-fat diet. There were a total of 58 children between 6 and 12 years of age (42 different patients) and 10 adult counselors from 19 to 30 years of age (eight different patients). On the first and eighth days patients were weighed, sputum cultures were collected, and spirometry was performed. In year 2, peak expiratory flow rate was monitored daily. Also in year 2, campers and counselors with CF were prescreened by sputum culture and excluded from camp if they had Pseudomonas cepacia in their sputum. Only one candidate screened was positive before camp. In year 1, no significant group changes in pulmonary function were identified. In year 2, significant increases on post-camp testing were found for FEF 25%-75% and PEF. Mean body weight for all patients increased significantly, by 0.4 kg in year 1 and 0.9 kg in year 2 (p less than .05). In year 1, a total of nine patients acquired a new organism in their follow-up sputum culture, including five who acquired a new Pseudomonas species. There was no intra-cabin pattern of spread. Four patients were positive for P. cepacia on day 1 culture. No new subjects acquired this organism on follow-up examination. In year 2, only one subject had P. cepacia on the first camp collection; he alone was positive on day 9.(ABSTRACT TRUNCATED AT 250 WORDS)

Role of flexible bronchoscopy and bronchoalveolar lavage in the diagnosis of pediatric acquired immunodeficiency syndrome-related pulmonary disease.

Flexible fiberoptic bronchoscopy with bronchoalveolar lavage was performed in 16 pediatric patients with the acquired immunodeficiency syndrome (AIDS) and deterioration in pulmonary function suggestive of opportunistic infection. In 62% of the patients Pneumocystis carinii was identified. Culture results showed a pure growth of Pseudomonas aeruginosa for one patient in addition to the Pneumocystis carinii. Bronchoscopy with lavage was well tolerated, with few complications even among patients with significant tachypnea and hypoxia. Because of its relative safety and effectiveness, this procedure should be considered the first invasive measurement used for evaluation of parenchymal lung disease in this population of patients.

Use of exercise in the management of cystic fibrosis: short communication about a survey of cystic fibrosis referral centers.

A survey of 47 cystic fibrosis referral centers was conducted to study the use of exercise in the management of patients with cystic fibrosis (CF). A questionnaire with 5 brief questions concerning the prescription and application of exercise therapy was sent to the first 47 centers (38.5%) listed in the 1988 CF Foundation Directory, and 46 (97.9%) were returned. While all but one of the respondents recommend exercise at least to selected patients, and while 80.4% of the centers refer patients to summer camp programs, only 43.5% offer exercise stress testing and only 21.7% offer an exercise program for their patients. Most of the respondents who recommend exercise prescribe aerobic exercise, swimming being the most frequently chosen type. Although there is a large discrepancy between those centers that acknowledge the benefits of exercise and those that have arranged for regularly available exercise services, inroads have been made in utilizing this therapeutic tool for patients with CF.

Laboratory confirmation of the diagnosis of cystic fibrosis.

The recent commercial introduction of a method for detecting albumin in meconium makes screening for cystic fibrosis feasible for many hospitals. If the tests is adopted, confirmatory tests should be available. Quantitative analyses of sweat for sodium by flame photometry and for chloride by silver titration and ion-sleective electrodes are now used as confirmatory tests. We compare results of these confirmatory methods applied to presons with cystic fibrosis, respiratory disorders, or digestive disorders, and to control subjects.