Patient No | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 |
Nationality | Turkish | Turkish | Turkish | Bulgarian | Spanish | Spanish | Spanish | Spanish | Spanish | Spanish | Bulgarian | Bulgarian |
Second CF mutation | 2183AA→G | 2183AA→G | 2183AA→G | ΔF508 | ΔF508 | ΔF508 | ΔF508 | ΔF508 | G542X | G542X | G1244E | 2789+5G→A |
Sex | F | M | M | F | M | F | M | M | F | F | F | F |
Onset of symptoms | 25 d | 15 d | 2 mth | At birth | 3 mth | 1 mth | At birth | ND | ND | ND | 3 mth | 2 mth |
Meconium ileus | No | No | No | Yes | No | No | Yes | No | No | No | No | No |
Disease progression | Died 2 mth | Severe | Severe | Died 1 mth | Moderate | Moderate | Severe | Moderate | Moderate | Moderate | Died 12 y | Severe |
No of affected sibs | 0 | 4 | 1 | 0 | 0 | 1 (11 y) | 0 | 1 cousin | 0 | 0 | 0 | 0 |
Disease progression for CF sibs | — | All died <1 y | Died 10 mth | — | — | Moderate | — | ND | — | — | — | — |
Data at diagnosis | ||||||||||||
Age at diagnosis | 2 mth | 15 d | 4 mth | At birth | 3 mth | 1 mth | 2 mth | 3 mth | 4 y | 1 y | 3 mth | 2 mth |
Sweat Cl- (mEq/l) | ND | 99 | 80 | ND | 100 | 100 | 100 | 90 | 93 | 110 | 132 | 130 |
Pancreatic insufficiency | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Failure to thrive | Yes | Yes | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes | Yes | No |
Gastrointestinal symp | Yes | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | No |
Pulmonary symp | Yes | Yes | Yes | Yes | Yes | No | Yes | Yes | No | No | Yes | Yes |
Dehydration | Yes | No | No | No | No | Yes | Yes | No | No | No | No | No |
Data at latest visit | ||||||||||||
Age | 2 mth | 7.5 y | 7 y | — | 2 y 6 mth | 6 y | 8 y | 14 y | 14 y | 3 y 6 mth | 12 y | 7 y |
Weight centile | 3 | 25–50 | 25 | — | ND | <3 | ND | 10–25 | ND | ND | 10–25 | ND |
Lung colonisation with bacterial pathogens | — | Pa1-150 | Pa | — | No | No | Pa | Pa | No | No | Pa, Sa | No |
↵1-150 Before medication. ND = not determined. Pa =Pseudomonas aeruginosa. Sa =Staphylococcus aureus.