Gender | 1st mutation | First SC | Last SC | SC min | SC max | Last FEV1 | Clinical features |
---|---|---|---|---|---|---|---|
M | N1303K | 110 | 62 | 61 | 110 | ND | pancreas sufficient; normal nutritional status; intermittent MSSA |
F | 2789+5G->A | 46 | 49 | 42 | 49 | 89 | pancreas sufficient; at risk of obesity; intermittent MSSA |
M | [delta]F508 | 30 | 52 | 30 | 54 | 90 | pancreas sufficient; at risk of obesity; intermittent MSSA |
F | 2789+5G->A | 85 | 49 | 40 | 85 | ND | pancreas sufficient; at risk of malnutrition |
M | 2789+5G->A | 43 | 43 | 36 | 81 | 97 | pancreas sufficient; malnutrition; chronic MSSA |
M | [delta]F508 | 68 | 47 | 47 | 68 | 98 | pancreas sufficient; overweight; male infertility; intermittent MSSA |
M | R334L | 72 | 71 | 68 | 72 | 53 | pancreas sufficient; normal nutritional status; 3 episodes of pseudo-Bartter’s syndrome; intermittent PA |
M | [delta]F508 | 24 | 49 | 24 | 49 | ND | pancreas sufficient; normal nutritional status |
M | [delta]F508 | 32 | 116 | 32 | 116 | ND | pancreas sufficient; normal nutritional status |
M | N1303K | 29 | 84 | 29 | 87 | ND | pancreas sufficient; malnutrition; intermittent MSSA |
M | [delta]F508 | 34 | 93 | 31 | 93 | ND | pancreas sufficient; at risk of malnutrition; intermittent MSSA |
F | 621+1G->T | 25 | 45 | 25 | 64 | ND | pancreas sufficient; at risk of malnutrition; intermittent MSSA |
M | 621+1G->T | 39 | 50 | 39 | 50 | ND | pancreas sufficient; normal nutritional status |
M | 621+1G->T | 24 | 57 | 24 | 57 | ND | pancreas sufficient; at risk of obesity; recurrent bronchitis |
M | L997F | 16 | 36 | 16 | 36 | 93 | pancreas sufficient; normal nutritional status; bronchiectasis |
F | [delta]F508 | 60 | 34 | 32 | 63 | 98 | pancreas sufficient; normal nutritional status; recurrent respiratory infections |
F | [delta]F508 | 24 | 55 | 20 | 55 | 102 | pancreas sufficient; at risk of obesity; intermittent MSSA |
F | G542X | 47 | 57 | 47 | 57 | 62 | pancreas sufficient; normal nutritional status; bronchiectasis; kidney stones; hypertension |
F | N1303K | 36 | 80 | 36 | 80 | ND | pancreas sufficient; normal nutritional status |
F | [delta]F508 | 37 | 35 | 26 | 52 | ND | pancreas sufficient; normal nutritional status |
F | [delta]F508 | 22 | 45 | 22 | 54 | 83 | atelectasis; normal nutritional status; bronchiectasis |
M | W1282X | 21 | 48 | 21 | 136 | 95 | pancreas sufficient; normal nutritional status |
M | [delta]F508 | 99 | 94 | 94 | 102 | 82 | pancreas sufficient; obesity; type 2 diabetes mellitus; bladder cancer (surgery in 2011); male infertility |
F | [delta]F508 | 26 | 60 | 26 | 68 | ND | pancreas sufficient; normal nutritional status |
M | G542X | 76 | 64 | 64 | 76 | 108 | pancreas sufficient; overweight; CBAVD |
F | [delta]F508 | 26 | 157 | 26 | 157 | 101 | pancreas sufficient; normal nutritional status; recurrent respiratory infections |
F | G85E | 34 | 39 | 34 | 39 | ND | pancreas sufficient; normal nutritional status |