Probability of occurrence of clinical features at specific age in 166 French [F508del]+[R117H;T7] compound heterozygous individuals
| NBS children (n = 61) | Non-NBS individuals (n = 105) | |||||||
| No. of affected cases/no. of patients with available data | Frequency (%) | Penetrance of clinical features (%)* at age (years) | No. of affected cases/no. of patients with available data | Frequency (%) | Penetrance of clinical features (%)* at age (years) | |||
| 2 (99% CI) | 2 (99% CI) | 10 (99% CI) | 30 (99% CI) | |||||
| Pulmonary symptoms | 10/59 | 17 | 21 (10 to 42) | 29/96 | 30 | 8 (3 to 19) | 16 (8 to 28) | 28 (17 to 42) |
| Asthma | 7/59 | 12 | 15 (6 to 37) | 9/96 | 9 | 4 (1 to 14) | 8 (4 to 20) | 10 (4 to 21) |
| Disseminated bronchiectasis | 0/59 | 0 | 0 (NA) | 7/96 | 7 | 0 (NA) | 0 (NA) | 5 (1 to 16) |
| Nasopharyngeal symptoms | 7/59 | 12 | 14 (5 to 37) | 18/92 | 20 | 5 (2 to 16) | 9 (4 to 21) | 20 (11 to 34) |
| Chronic sinusitis | 7/59 | 12 | 14 (5 to 37) | 13/92 | 14 | 5 (2 to 16) | 10 (4 to 22) | 15 (8 to 28) |
| Nasal polyposis | 0/59 | 0 | 0 (NA) | 7/92 | 8 | 0 (NA) | 0 (NA) | 8 (3 to 21) |
| Pancreatic symptoms | 1/59 | 2 | 2 (0 to 20) | 7/84 | 8 | 0 (NA) | 0 (NA) | 8 (3 to 23) |
| Pancreatic insufficiency | 1/59 | 2 | 2 (0 to 20) | 2/84 | 2 | 0 (NA) | 0 (NA) | 2 (0 to 19) |
| Chronic pancreatitis | 0/59 | 0 | 0 (NA) | 0/84 | 0 | 0 (NA) | 0 (NA) | 0 (NA) |
| Acute pancreatitis | 0/59 | 0 | 0 (NA) | 5/84 | 6 | 0 (NA) | 0 (NA) | 4 (1 to 18) |
| Staphylococcus aureus positive sputum/oropharyngeal cultures† | 19/49 | 39 | 37 (21 to 59) | 10/37 | 27 | 0 (NA) | 12 (3 to 36) | 31 (13 to 63) |
| Pseudomonas aeruginosa positive sputum/oropharyngeal cultures† | 6/49 | 12 | 13 (4 to 35) | 1/39 | 3 | 0 (NA) | 0 (NA) | 0 (NA) |
NA, not applicable; NBS, newborn screened; non-NBS, individuals who were not referred through newborn screening.
*Results are Kaplan–Meier estimates
†Oropharyngeal cultures in NBS children; sputum cultures in non-NBS individuals.