Table 1. Phenotypic characteristics of the cystic fibrosis patients.
| Clinical features | c.2657+5G>A/CF (n=11) | P | F508del/F508del (n=45) | c.580-1G>T/CF (n=3) |
|---|---|---|---|---|
| Sex, (male/female) | 5/6 | NS | 28/17 | 2/1 |
| Current age, years (mean±SD) | 36.8±7.0 | 0.0001 | 23.8±5.3 | 22.6±3.5 |
| Age at diagnosis, years (mean±SD) | 21.0±8.1 | 0.0001 | 3.5±4.5 | 5.6±1.1 |
| Sweat test, mEq/l (mean±SD) | 103.4±23.3 | NS | 112.5±20.3 | 102.3±4.0 |
| FEV1% predicted (mean±SD) | 82.4±31.4 | 0.004 | 47.4±23.1 | 32.8±5.2 |
| FVC % predicted (mean±SD) | 84.2±32.1 | 0.045 | 61.4±23.9 | 53.2±4.7 |
| Oxigen saturation, % (mean±SD) | 96.1±1.5 | 0.020 | 93.9±4.6 | 91.6 |
| BMI (mean±SD) | 22.3±4.3 | 0.037 | 19.1±2.7 | 20.6 |
| Trypsine, μg/l (mean±SD) | 343.8±169.8 | 0.0001 | 15.6±20.7 | 24.5±48.8 |
| Pancreatic insufficiency, n (%) | 3 (27) | 0.0001 | 43 (93) | 3(100) |
| Pancreatitis, n (%) | 2 (18) | 0.035 | 0 (0) | 0 (0) |
| Diabetes mellitus, n (%) | 0 | NS | 9 (20) | 2 (66) |
| Lung symptoms at diagnosis (%) | 82 | 0.0001 | 60 | — |
| Bronchiectasis, n (%) | 11 (100) | NS | 45 (100) | 3(100) |
| Bilateral bronchiectasis, n (%) | 8 (77) | NS | 12 (27) | 0 |
| Diffuse bronchiectasis, n (%) | 3 (23) | NS | 33 (73) | 3(100) |
| Bronchial colonization, n (%) | 10 (91) | NS | 44 (98) | 3(100) |
| Pseudomonas colonization, n (%) | 7 (64) | NS | 38 (84) | 2(66) |
| Hemoptysis, n (%) | 11 (100) | 0.001 | 21 (47) | — |
| Sinusitis, n (%) | 11 (100) | 0.024 | 30 (66) | 3(100) |
| Admission to hospital (mean±SD) | 1.3±2.7 | NS | 2.0±4.6 | — |
FEV1, forced expiratory volume in 1 s; FVC, forced vital capacity; BMI, body mass index; NS, not statistically significant.