Table 1 demographic data of the enrolled patients
From: S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy
Patient | Gender | Age at diagnosis (months) | Cause of diagnosis | Second mutation | SCL at diagnosis | IRTa (ng/ml) |
|---|---|---|---|---|---|---|
1 | M | 1 | NBS | F508del | 46 | 74 |
2 | M | 20 | Hypochloremic Alkalosis | S737F | 45 | 31 |
3 | M | 1 | NBS | F508del | 35 | 76 |
4 | F | 1 | NBS | 541delC | 48 | 108 |
5 | M | 10 | Hypochloremic Alkalosis | 22,23,24 del | 71 | 37 |
6 | M | 1 | NBS | W1282X | 51 | 79 |
7 | F | 1 | NBS | F508del | 52 | 100 |
8 | F | 1 | NBS | F508del | 49 | 76 |
9 | M | 1 | NBS | F508del | 51 | 76 |