Genotype* | 1811 | 1811 | 1811 | 1811 | 1811 | 1811 | 1811 | 1811 | 1811 | 1811 | 1811 | 1811 | 1811 |
| 1811 | 1811 | 2183AA>G | F508del | F508del | F508del | F508del | F508del | F508del | G542X | N1303K | N1303K | W1063X |
Sex | M | M | F | M | F | F | M | F | M | F | F | M | M |
Current age (y) | 8.3 | 4.9 | 12.5 | 2.2 | 24.2 | 22† | 22.1 | 18.1 | 1.3 | 10.6 | 23.5† | 16† | 14 |
Age at diagnosis (y) | 0.3 | 0 | 0.1 | 0 | 0.5 | 1 | 10 | 4 | 0 | 3 | 0.1 | 6 | 0.3 |
First symptoms | Digestive | Meconium ileus | Neonatal screening | Meconium ileus | Pulmonary, hypotrophy | Pulmonary, hypotrophy | Digestive | Pulmonary, digestive, hypotrophy | Meconium ileus | Pulmonary, digestive | CF family history | Pulmonary | Pulmonary, digestive |
Sweat chloride (mmol/l) | 120 | 70 | 77 | 90 | 82 | 115 | 70 | 120 | 57 | 90 | 77 | 63 | 108 |
P aeruginosa colonisation | No | Yes | No | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Weight (SD) | −2 | −3 | −0.5 | −1 | −2 | −2 | 0.5 | −3 | 0.5 | −2 | 0 | −3 | −3 |
Height (SD) | −2 | −1.5 | −0.5 | 0 | −2 | 0 | 1 | −2.5 | 1.5 | −2 | 0 | −3 | −3 |
FEV (% predicted) | 111 | | 104 | | | 35 | 33 | 54 | | 70 | 68 | 30 | |
FVC (% predicted) | 102 | | 102 | | | 45 | 58 | 67 | | 90 | | 40 | |
Brasfield score | 9 | 13 | 5 | 2 | | 18 | 20 | 16 | 0 | 10 | 12 | 21 | 3 |
Shwachman score | | | 90 | | 80 | 50 | 55 | 60 | 95 | 80 | 55 | 35 | |
Elastase (μg/g)‡ | | 20 | | 16 | | | | | 15 | | | | 15 |
Pancreatic insufficiency | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Other clinical features | Biliary lithiasis | Gastro-oesophageal reflux | | Dehydration | Biliary lithiasis, heart-lung transplantation | Type 2 diabetes | Malnutrition | | | | Severe malnutrition | | Congenital encephalopathy |