Table 2 Assessment of basic defect (A): sweat tests and nasal potential difference (NPD) measurements (mV)

Patient number	CFTR genotype	Sweat chloride concentration (mval/l)		Basal PD (mV)	Change in PD (mV)
Patient number	CFTR genotype	Day of assessment	Prior tests (age)	Basal PD (mV)	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