Patient number | CFTR genotype | Sweat chloride concentration (mval/l) | Basal PD (mV) | Change in PD (mV) | ||
Day of assessment | Prior tests (age) | Amiloride | Chloride-free + isoproterenol | |||
Out-of-frame deletion | ||||||
1 | CFTRdele2,3(21 kb)/CFTRdele2,3(21 kb) | 103 | 95 (10 mo) | −60 | 22 | −10 |
Nonsense mutation | ||||||
2 | R553X/R553X | 96 | 100 (16 mo) | −62 | 34 | −7 |
3 | R1162X/R1162X | 98 | 110 (2 y 1 mo) | −48 | 23 | −4 |
4 | R1162X/R1162X | 104 | 112 (1 mo) | −39 | 30 | 0 |
Splice-site mutation | ||||||
5 | 1898+3 A-G/1898+3 A-G | 73 | 69 (4 mo) | −33 | 21 | −3 |
6 | 3849+10 kb C-T/3849+10 kb C-T | 92 | 64 (20 y 5 mo) | −44 | 30 | −12 |
49 (28 y 4 mo) | ||||||
7 | 3849+10 kb C-T/3849+10 kb C-T | 20 | 50 (11 y 2 mo) | −27 | 12 | +3 |
In-frame deletion | ||||||
8 | CFTRdele2(ins186)/CFTRdele2(ins186) | 102 | 134 (4 mo) | −45 | 30 | −1 |
9 | CFTRdele2(ins186)/CFTRdele2(ins186) | 100 | 119 (9 y) | −48 | 31 | −8 |
10 | CFTRdele2(ins186)/CFTRdele2(ins186) | 131 | 100 (4 y) | −58 | 41 | −12 |
Missense mutation | ||||||
11 | E92K/E92K | 118 | 93 (8 mo) | −52 | 20 | −11 |
12 | G314E/G314E | 15 | 43 (6 y 2 mo) | −19 | 4 | −16 |
13 | L997F/L997F | 8 | ||||
14 | W1098L/W1098L | 107 | 118 (2 mo) | |||
15 | M1101K/M1101K | 108 | 120 | −56 | 33 | −16 |
16 | M1101K/M1101K | 130 | 120 | −64 | 26 | −15 |
17 | M1101K/M1101K | 118 | −29 | 13 | −10 | |
F508del/F508del (n = 74)7 | 106±22 | −56±10 | 28±9 | −8±5 | ||
non-CF (n = 25) | 16±9 | −20±10 | 11±6 | −30±8 |
Sibpairs: patients 3 & 4, 6 & 7, 9 & 10, 15, 16 & 17.