Increased detection of cystic-fibrosis-related diabetes in Australia.

OBJECTIVES: To estimate the incidence of cystic-fibrosis-related diabetes (CFRD) in youth from New South Wales (NSW) and the Australian Capital Territory (ACT), Australia and to examine demographic/clinical features at diagnosis. METHODS: Incident cases of CFRD in young people aged ≤ 18 years diagnosed during 2000 to 2008 were identified from four paediatric cystic fibrosis (CF) clinics and the NSW/ACT Australasian Paediatric Endocrine Group Diabetes Register. RESULTS: CFRD was diagnosed in 41 cases (59% girls). The estimated mean annual incidence of CFRD among patients with CF was 9.4 per 1000 person years (95% CI 6.8 to 12.8). Incidence increased from 2.0 per 1000 person years in 2000 to 22.1 per 1000 in 2008 (incidence RR 1.3, 95% CI 1.1 to 1.4). Haemoglobin A1c (HbA1c) was abnormal in the majority at diagnosis: median HbA1c was 6.9% (6.2-8.1%). More cases were diagnosed using an oral glucose tolerance test in 2007-2008 compared with previous years (61% vs 6%, p<0.001). CONCLUSIONS: CFRD is increasingly recognised and now affects approximately one in five young people with CF. The rising incidence is likely to be due to increased detection, resulting from greater awareness and changes in screening practices. Widespread uptake of consensus guidelines for screening will ensure accurate case detection, but will also impact on patient care and resource allocation.

The effect of an exercise intervention on aerobic fitness, strength and quality of life in children with haemophilia (ACTRN012605000224628).

BACKGROUND: Children with haemophilia have lower levels of fitness and strength than their healthy peers. We present the protocol of a study designed to determine whether an exercise intervention improves quality of life, aerobic fitness and strength in children with haemophilia. METHODS/DESIGN: The study will be a randomised, assessor-blinded, controlled trial of exercise treatment. Seventy children aged between 6 and 18 years with haemophilia or von Willebrand disease will be recruited from two paediatric haemophilia clinics in NSW. Each participant will be allocated to an exercise group or a control group using a concealed allocation procedure. The control group will receive usual medical care while the intervention group will receive usual medical care plus an exercise program for 12 weeks. Outcomes (VO2peak, knee extensor strength and quality of life) will be measured at baseline and on completion of the exercise program by a blinded assessor. The primary analysis will be conducted on an intention to treat basis. The effects of the exercise intervention on each of the three primary outcomes will be estimated from between-group differences in the mean outcome adjusted for baseline scores. DISCUSSION: This study will be the first randomised controlled trial to examine the effects of a structured exercise program on fitness and quality of life in children with haemophilia.

Muscle function and resting energy expenditure in female athletes with cystic fibrosis.

The pathophysiology of impaired exercise tolerance in patients with cystic fibrosis (CF) is not completely understood. The objective of this study was to compare exercise ability (at clinical and cellular levels) and resting energy expenditure in female athletes with CF compared with matched control subjects. Sixteen subjects and matched control subjects participated in the study. The girls with CF not only had a significantly greater resting energy expenditure (7.6% higher; p<0.05), their habitual daily activity was also significantly greater than that of control subjects (15% greater; p<0.01). Peak aerobic capacity was similar in both groups. However, peak anaerobic power was 20% less (p<0.05) in girls with CF. The 31P magnetic resonance spectroscopy studies demonstrated that there were no differences between the groups at rest, but at 25% total work output the girls with CF were less acidotic (CF, pH 6.99 [0.06]; control subjects, 6.90 [0.05]) and had a significantly lower inorganic phosphorus-to-phosphocreatine ratio (CF, 0.34 [0.07]; control subjects, 0.41 [0.08]). These differences continued to increase to maximal exercise. This study demonstrates that in spite of normal lung function and good nutritional status, females athletes with CF still had significant deficiencies in some measures of fitness and muscle metabolism compared with healthy athletes.

Validation of shuttle tests in children with cystic fibrosis.

Shuttle tests are simple, inexpensive field tests that have been used to estimate the cardiorespiratory status of children. It has yet to be validated in children with CF. The aim of this study was to assess the reproducibility and criterion validity of shuttle tests in children with cystic fibrosis (CF). Ninety-three CF patients aged 6 to 16 years of age with a wide range of disease severity performed the study. The 10-m shuttle test was used for children 7 years of age and younger and those deemed too chronically ill by their physicians to perform the longer test (n = 35.) All other children performed the 20-m shuttle test (n = 58). Reproducibility and criterion validity were assessed for each child over a two week period. Gas analysis was performed throughout testing using a polargraphic gas analyzer. The 10-m shuttle tests were reproducible (mean difference between tests VO(2) 2.41 mL/kg/min, CI 3.46,-0.18) and the difference from treadmill testing was not statistically significant (mean difference VO(2) 5.30 mL/kg/min, CI-7.46, 1.18). The 20-m shuttle tests were reproducible (mean difference between tests VO(2) 2.07 mL/kg/min, CI-3.90,0.60) and the difference from treadmill testing was not statistically significant (mean difference VO(2) 3.50 mL/kg/min, CI-4.90, 1.60). We conclude that when formal exercise testing with treadmill or cycle ergometer cannot be performed, the shuttle tests provide a reproducible and valid alternative.

The relationship between genotype and exercise tolerance in children with cystic fibrosis.

The relationship between fitness and genotype in children with cystic fibrosis (CF) and at least one copy of the DeltaF508 mutation was examined. Genotype was classified according to the second CF mutation. Fitness was measured by peak aerobic capacity (using a modified Bruce protocol during treadmill exercise) and anaerobic power (using the Wingate test on a cycle ergometer). The class of cystic fibrosis transmembrane regulator proteins (CFTR) mutation was statistically related with aerobic capacity, peak anaerobic power, body mass index, lung function (forced expiratory volume in one second), and disease severity as measured by the Shwachman score. Patients with mutations causing defective CFTR production (Class I) or processing (Class II) had a significantly lower peak aerobic capacity (28.6 +/- 4.2 ml/kg/min and 31.7 +/- 5.4 ml/kg/min, respectively) than those with a mutation conferring defective regulation of CFTR (Class III) (43.9 +/- 6.4 ml/kg/min). The peak anaerobic power in subjects with mutations inducing decreased CFTR conduction (Class IV) or CFTR mRNA (Class V), were significantly higher (11.4 +/- 1.7 and 11.6 +/- 1.5 watts/kg, respectively) than children with Class I (9.7 +/- 1.4 watts/kg), Class II (9.8 +/- 1.4 watts/kg), or Class III (10.5 +/- 1.8 watts/kg) mutations. There were no statistically significant differences in the lung function of patients with the different mutations. These results indicate a relationship between CF genotype and some measures of fitness, the mechanisms of which remain to be determined.