Table 1.
Patient cohort (A), data base characteristics (B), and distribution of CFTR mutations (C) taken from the Bernese CF Registry (n = 178, 87.3% of a total number of 204 CF patients)
| A | ||||||
|---|---|---|---|---|---|---|
| Patient cohort follow-up statistics | ||||||
| Gender distribution of patients | Blood gas tests within age periods | |||||
| n | % | |||||
| - males | 88 | 49.4 | 5 to 8 y | 427/1457 | 29,3% | |
| - females | 90 | 50.6 | 9 to 14 y | 527/1457 | 36.2% | |
| 178 | 100 | 15 to 18 y | 503/1457 | 34.5% | ||
| From entire database, 26 patients (12.7%) excluded because of insufficient number of tests, (6) or age < 6 years (20) | ||||||
| B | ||||||
| Blood gas test and lung function measurement follow-up statistics | ||||||
| Number of blood gas tests median (range) | Blood gas tests per year of observation | |||||
| Total of tests | 1457 | 1987 to 1993 | 326/1457 | 22.4% | ||
| per child | 8.1 (3-15) | 1994 to 2000 | 539/1457 | 37.0% | ||
| per year of observation | 68.2 (37-90) | 2001 to 2008 | 592/1457 | 40.6% | ||
| C | ||||||
| Distribution of CFTR mutations | ||||||
| n | % | |||||
| Inframe/inframe (F508del[2]) | a | 103 | 57.9 | |||
| Inframe/nonsense | b | 22 | 12.4 | |||
| Frameshift/F508del | c | 19 | 10.7 | |||
| Frameshift/non-F508del | d | 12 | 6.7 | |||
| Inframe/splicesite | e | 7 | 3.9 | |||
| Miscellaneous | f | 15 | 8.4 | |||
| Total | 178 | 100.0 | ||||
| Equal distribution of CFTR genotypes over age range and over years of observation | ||||||
CFTR: cystic fibrosis transmembrane regulator