1. Measurements of resting metabolic rate were made by open-circuit indirect calorimetry in 78 unrelated cystic fibrosis patients and 30 healthy control subjects. The aims of this study were: (i) to determine the range of variability in resting metabolic rate in cystic fibrosis, (ii) to relate this to pulmonary function and body size, and (iii) to investigate the hypothesis that, in cystic fibrosis, genotype exerts a significant influence on energy requirements. 2. There was no significant difference in age or body weight between patients with cystic fibrosis and control subjects. Resting metabolic rates for control subjects fell within +/- 10% of predicted values. Fifty-nine per cent of patients with cystic fibrosis had elevated resting metabolic rates (i.e. greater than 111% of predicted). Genotype analysis divided the patients with cystic fibrosis into three groups: delta F508 homozygotes, delta F508 heterozygotes and others. Patients homozygous for the delta F508 allele had a significantly higher resting metabolic rate (121% of predicted, 95% confidence interval 116-126%), compared with other genotypes (P less than 0.005). 3. There were significant differences in pulmonary function between the groups (P less than 0.005). However, after adjustment of individual resting metabolic rates for differences in pulmonary function by using analysis of covariance, resting metabolic rates remained significantly higher for delta F508 homozygotes than for other genotypes (P less than 0.05). 4. We conclude that there is a significant contribution to resting metabolic rate in cystic fibrosis associated with specific mutations that is not explained by declining pulmonary function.(ABSTRACT TRUNCATED AT 250 WORDS)

Twenty-eight patients suffering from cystic fibrosis, with an age range of 8-21 years entered a randomised cross-over trial to study the efficacy of the Positive Expiratory Pressure (PEP) mask as a method of chest physiotherapy, both on its own and in conjunction with other physiotherapy techniques. Twenty-four of these patients completed the trial consisting of 4 treatment programmes each lasting one month and with no wash-out period between them. Five of these patients went on to a fifth programme of Forced Expiratory Technique (FET) alone. At the end of the trial, no significant difference was found between the programmes as regards growth, Shwachman score, Chrispin-Norman score or pulmonary function tests. Twenty-three patients chose to continue using the PEP mask in conjunction with FET long-term as their chest physiotherapy programme as they felt it was an effective treatment allowing increased independence, with postural drainage being kept to a minimum.

The Cystic Fibrosis Clinic at the Royal Belfast Hospital for Sick Children has treated 31 children with ciprofloxacin, for serious pseudomonas infection in cystic fibrosis, and carefully monitored the safety and acceptability of the drug. Initially, eight very ill children were treated on a named-patient basis, with an encouraging clinical response and few adverse effects. Children aged 10-18 years were included in a study of four consecutive exacerbations of respiratory disease, comparing (i) oral ciprofloxacin in each episode with (ii) ciprofloxacin alternating with intravenous azlocillin and tobramycin. Other children with cystic fibrosis were subsequently treated with ciprofloxacin, as the need arose. In all the groups very few adverse reactions were found; in particular only one child developed arthralgia. A total of 202 children in the UK have been treated with ciprofloxacin on a named-patient basis, and their clinicians have reported 46 adverse events that may have been drug-related. Overall ciprofloxacin appears to be safe and effective in children but concern about the possible occurrence of arthropathy remains and long term follow-up of these children may be necessary.

Background: The majority of patients with cystic fibrosis (CF) are diagnosed in the first decade of life. In a small number of patients, the diagnosis is not made until later. Objective: In this study, the clinical and genetic features of patients diagnosed after the age of 10 were examined. Methods: All living patients in Northern Ireland diagnosed prior to 1983, when neonatal screening was introduced, were studied. A total of 103 patients were identified of whom 18 were diagnosed after the age of 10. The relationships between late diagnosis and clinical presentation, sputum microbiology, pancreatic sufficiency, nutritional status, genotype and distance from the regional CF centres was determined by multiple regression analysis. Results: All 18 late-diagnosed patients had a sweat (chloride >70 mmol/l). Late diagnosis was significantly related to carriage of the R117H mutation (r² = 0.45) and pancreatic sufficiency (r² = 0.37). There was a weak relationship with pulmonary function (r² = 0.09). Conclusions: In Northern Ireland, late diagnosis in mainly associated with pancreatic function and carriage of the R117H mutation.

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