Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.

We have searched for the delta F508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the delta F508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.

Eight-year follow-up of pulmonary function and oxygen uptake during exercise in 16-year-old males with cystic fibrosis.

Eight of nine Norwegian 16-year-old males with cystic fibrosis, and six age-matched, physically active controls were included in an eight-year follow-up study, involving pulmonary and bicycle exercise testing. The individual's level of regular physical exercise was registered, and we investigated whether or not this could be correlated to changes in clinical status, lung function and maximal oxygen uptake. Four males with cystic fibrosis trained regularly for 4-7 h weekly, while the other four patients did no regular exercise. Three of the latter died during the study, and the fourth male in the non-training group deteriorated significantly during the study period of eight years. The four males in the training group showed improvement in lung function parameters and maximal oxygen uptake, but two of them had more marked obstructive lung disease after the age of 24 years. Even though the sample was small, and several other factors may influence the results, the study indicates that regular physical exercise has beneficial long-term effects on clinical status, lung function and physical fitness in adolescent cystic fibrosis males.

Five-year follow-up of pulmonary function and peak oxygen uptake in 16-year-old boys with cystic fibrosis, with special regard to the influence of regular physical exercise.

Eight Norwegian boys with cystic fibrosis (CF) 16 years of age were included in a 5-year follow-up study. They underwent pulmonary function and bicycle exercise tests 2-16 times each. The individual's habitudinal level of physical exercise was registered by interviews and training diaries to study whether it could be correlated to the developments in lung function, peak oxygen uptake (peak VO2), and Shwachman score. The boys were characterized by a large interindividual variation in both lung function, peak VO2, and Shwachman score at the first test in the study. Four boys trained regularly 3-9 h weekly, while the four others had no regular exercise. Two of the latter, who also had the lowest Shwachman scores, died during the study. The other two in the non-training group deteriorated significantly in clinical scores, lung function variables, and peak VO2 during the study period of 5 years. The four boys in the training group improved in lung function and peak VO2 in accordance with or even better than expected in healthy adolescent boys during the same growth period. Even though the material is small, and several factors might influence the results, the study indicates that regular physical exercise has beneficial long-term effects on lung function, physical fitness, and Shwachman score in adolescent CF boys.

Cystic fibrosis patients running a marathon race.

This article presents three male marathon runners with cystic fibrosis (CF) who successfully completed the New York Marathon 1984 in warm environments in 6.10.33, 4.42.22, and 4.32.15, respectively. The characteristics of the CF patients and their companions as well as a presentation of their runs are given.

Biochemical changes and endocrine responses in cystic fibrosis in relation to incremental maximal exhaustive exercise.

The purpose of this study was to compare biochemical changes and endocrine responses during an incremental maximal bicycle test in three well-trained 18-year-old patients with cystic fibrosis (CF) and in three healthy controls. Although the blood concentration at rest of the white cell count, haptoglobin, phosphorus, urea, creatinine, and uric acid were somewhat different in the two groups, the CF patients had similar biochemical changes in response to the exercise compared with the healthy men. The endocrine responses to exercise seemed to be different between the two groups with regard to changes in cortisol, growth hormone, and testosterone concentrations. The differences, however, were probably caused by differences in age, training situation, and psychological stress reaction rather than by pathological mechanisms.

Biochemical changes and endocrine responses in cystic fibrosis in relation to a marathon race.

Biochemical changes and endocrine responses during the New York Marathon (42195 m) were investigated in three 18-year-old male adolescents with cystic fibrosis (CF) and three healthy men who accompanied the CFs during the race. The ambient temperature was 20 degrees-28 degrees C and the relative humidity 98%-75% during the run. The CF patients, who had Shwachman scores of 60, 85 and 95 completed the run without major problems in 6.10, 4.42, and 4.32 h, respectively. Serum concentrations of Na and Cl decreased slightly, but the values were still within normal range. Na and Cl excretions in the urine decreased to very low levels in the CF adolescents during the run. All the other biochemical changes were similar to the changes in the controls. Aldosterone concentration increased to a higher level and maintained this increase for a longer time after the race in the CFs. Testosterone concentration decreased more in the CFs during the race compared with the controls. Growth hormone concentration showed individually varying changes in response to the exercise. This study demonstrates that patients with CF may participate in strenuous prolonged exercise even in humid and hot conditions, without untoward effects. The observed differences in hormonal responses to exercise might be explained by differences in age, training status, and relative exercise intensity rather than by hormonal or other disturbances in CF.

Fatty acids in cystic fibrosis in response to a marathon race.

Lipid metabolism was studied in three cystic fibrosis (CF) patients (18 years old) and three healthy controls (35-40 years old) who completed the New York Marathon 1984. Lipase was not detectable in plasma from two of the CF patients, but in one CF patient with a functioning pancreas and in the three controls it increased during and after the run. Cholesterol concentrations were lower in all patients than in the controls. The HDL/total cholesterol ratios increased in all runners throughout the observation period, substantially more in the patients than in the controls. Triglycerides and glycerol values were similar in the two groups. The relative distribution of fatty acids in total plasma, plasma free fatty acid fractions, and total red blood cell membranes, at rest, were similar to those earlier reported both for the CF patients with pancreatic insufficiency and for the controls. Lower relative concentrations of linoleic acid (C18:2n6) and higher relative concentrations of C14:0, C16:0, C16:1, C18:3n6, and C20:3n6 were found in the CF specimens. During and after the race, linoleic acid concentration increased and the other fatty acids decreased, giving a more normalized pattern in the patients. The fatty acid pattern of the CF patient with a functioning pancreas behaved more like the healthy controls. The fatty acid pattern of the red cell membrane did not change during or after the run. Although the observations are few, it is encouraging that both the HDL/total cholesterol ratio and the fatty acid pattern improve in response to prolonged aerobic exercise.

Dopamine and catecholamines in cystic fibrosis in response to a marathon race.

The excretions of 3,4-dihydroxyphenylalanine (DOPA) metabolites and 5-hydroxyindoleacetic acid (5-HIAA) were followed before, during, and after a marathon race in three patients with cystic fibrosis (CF) and three healthy controls. Moderately increased DOPA excretions in CFs compared with controls before, during, and after the race support the idea that there is an altered metabolism of DOPA in CF. Noradrenaline, adrenaline, homovanillic acid, and vanilmandelic acid were increased in CFs compared with controls mainly during and after the race, which might be a reflection of the heavier working intensity that the CF patients had in comparison with their healthy controls. 5-HIAA, the breakdown product of serotonin, was higher in CFs in comparison with controls before and during the run, but equal thereafter. This reflects an ameliorated serotonin metabolism after the run.

Vigorous exercise in a female with cystic fibrosis: spirometric, biochemical, and endocrine responses during four types of intensive exercise.

Spirometric, biochemical, and endocrine responses during a maximal ergometer cycle test and during three runs (10 km, 21.1 km, and 42.2 km) were investigated in one female with cystic fibrosis (CF) 27 years of age and in two healthy control females 26 and 29 years of age. One of the controls ran as a companion to the CF woman, while the other ran at her own speed. The CF woman has a chronic respiratory Pseudomonas aeruginosa infection, and her spirometric values were 50%-70% of predicted values at the time of the study. For the last years she has been training almost daily with aerobics, running, cycling, or skiing. She completed the four types of exercise without major problems. Her spirometric values increased transiently following the cycle test and for several hours following the three races (maximal 20%-30% increase of spirometric values), while the controls had transient decreases of the same variables in response to the runs. The biochemical and the hormonal changes were similar in the CF woman and the control who ran at her own speed, while the control who was a less stressed companion showed smaller changes. This study demonstrates that well-trained females with CF may participate in strenuous prolonged exercise without untoward effects.

Pulmonary function and oxygen uptake during exercise in 11-year-old patients with cystic fibrosis.

Ten patients with cystic fibrosis (CF), 5 girls and 5 boys, 11 years of age, underwent pulmonary function and bicycle exercise testing. The material includes all but 2 CF patients in this age group in southern and eastern Norway. The CF children had a moderately reduced pulmonary function, the girls more pronounced than the boys. The mean maximal oxygen uptake (max VO2) in the CF boys was 55 ml/kg/min (94% of age predicted value; range 79-105%), and the CF girls 42 ml/kg/min (79% of age predicted value; range 67-89%). The mean maximal peak heart rate was 195 beats/min. Only one CF girl showed apparent pulmonary limitation during exercise. Increased ventilatory equivalent for oxygen was found during both rest and exercise for the CF girls, but only during rest for the CF boys. Max VO2 was fairly well related to the habitudinal physical activity of the children (r = 0.79).

Pulmonary function and oxygen uptake during exercise in 16 year old boys with cystic fibrosis.

Eight of altogether 9 Norwegian boys with cystic fibrosis (CF), aged 15-17 years, and 8 healthy boys of the same age underwent pulmonary function and bicycle exercise testing. Although the CF boys showed large individual variations, the two groups showed great differences in mean body height and weight, pulmonary function variables and maximum oxygen uptake. The maximum oxygen uptake for the CF boys ranged from 40 to 125% (mean 79%) of predicted values. Increased ventilatory equivalent for oxygen was a characteristic finding during rest and exercise for the CF boys, and their oxygen uptake was higher during rest and corresponding work loads compared with the controls. As physical training is beneficial in cystic fibrosis, such exercise tests are of value for prescribing individual training programs and in evaluating their effects.

Paroxysmal cold haemoglobinuria. The most frequent acute autoimmune haemolytic anaemia in children?

Paroxysmal cold haemoglobinuria (PCH) is a disease which today is met mainly in its acute form in children. The diagnosis is revealed by a careful serological examination. Case reports of four children with PCH are given in this paper. They all showed typical clinical pictures of PCH, and displayed the expected serological findings, including a bithermic autoantibody (haemolysin), the Donath-Landsteiner antibody. Children with PCH often require immediate transfusion therapy, but certain precautions should be taken regarding transfusion policy in these patients. When the acute phase is overcome, the prognosis is excellent.

The successful completion of the Oslo Marathon by a patient with cystic fibrosis.

Metabolic consequences of prolonged, severe exercise were investigated in a well trained 16-year-old boy with cystic fibrosis (CF) who completed the Oslo Marathon (42 195 m). His CF was diagnosed 6 years earlier. He had minimal radiological lung changes and a maximal oxygen uptake of 63.0 ml/kg/min. Several blood, urine and lung function parameters as well as body weight, fluid intake and rectal temperature were measured. None of the findings differed from those reported in healthy marathoners. Interestingly, no changes were found in the serum concentrations of electrolytes.

Scleroderma with massive regional lymphadenopathy.

Scleroderma in a two-year-old boy with gross enlargement of the right inguinal lymph nodes, as an early sign, is reported. Repeated lymph node biopsies revealed non-characteristic reactive changes and hyperplasia, but eventually histological examination of skin and muscle from the right leg were diagnostic. The effect of one year of D-penicillamine therapy is briefly mentioned.