Table 3 Characteristics of the subjects with stop codon mutations and variation of clinical and functional parameters after treatment with gentamicin.
Genotype | Sputum colonisation | Age (year) | Δscore | FEV1var | FVCvar | FEF25–75var | Sweat Cl- at D0 | Sweat Cl- at D15 | ΔCl-free-iso at D0 | ΔCl-free-iso at D15 | ICC |
|---|---|---|---|---|---|---|---|---|---|---|---|
Y122X+/+ | SA | 11 | -4 | 24 | 23 | 31 | 126 | 91 | 0 | 0 | - |
Y122X+/+ | PA* | 16 | -2 | -12 | -6 | -15 | 79 | 37 | NP | 0 | - |
Y122X+/+ | PA*,SA | 18 | -4 | 2 | -2 | -8 | 109 | 115 | 0 | NP | + |
Y122X+/+ | PP* | 15 | -5 | 25 | 19 | 86 | 90 | 91 | -0.5 | 0 | + |
Y122X+/+ | PP* | 13 | -15 | 18 | 8 | 96 | 103 | 46 | -1.6 | -3.8 | + |
Y122X+/+ | SA | 22 | -13 | 3 | 0 | 7 | 108 | 100 | -3.7 | -17.6 | + |
Y122X+/+ | BC* | 21 | -22 | 18 | 24 | 150 | 136 | 135 | 0 | -4 | + |
Y122X+/+ | PA* | 12 | -12 | 3 | -9 | NP | 119 | 86 | 0 | -8.2 | NP |
Y122X+/F508del | SA* | 10.5 | -3 | 21 | 21 | 45 | 114 | 65 | -1 | -3.3 | + |
R1162X +/+ | SA | 14 | -2 | 0.4 | 0 | 4 | 116 | 131 | 0 | 0 | - |
F508del/W1282X | PA | 13 | -2 | 15 | 14 | 27 | 103 | 100 | 0 | -1.3 | NP |
G542X +/+ | SA | 11 | -4 | 21 | 17 | 20 | 113 | 105 | 0 | 0 | NP |
R553X/CFTRdele17b | PA* | 10 | 0 | NP | NP | NP | 115 | NP | -4 | NP | NP |