Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

Table 3 Distribution of patients with cystic fibrosis considering the genotype for mutations in the CFTR gene and classes of identified mutations

Genotype	Number	Percent	Group of patients
F508del/F508del	88^a	52.1	Patients with two Class I, II and/or III
F508del/G542X	22	13
F508del/N1303K	8^b	4.7
F508del/R1162X	8	4.7
F508del/R553X	5	3
F508del/1584-18672pbA > G	4	2.4
F508del/c.1717-1G > A	3	1.8
F508del/R1066C	4	2.4
3120 + 1G > A/R1066C	3	1.8
F508del/2183AA > G	1	0.6
F508del/ 6b-16 exon duplication	2	1.2
F508del/G85E	2	1.2
F508del/S549R (T > G)	2	1.2
F508del/S4X	3^c	1.8
G542X/2183AA > G	1	0.6
G542X/R1162X	2	1.2
R1162X/R1162X	4	2.4
F508del/1812-1G > A	4	2.4
2183AA > G/2183AA > G	2	1.2
3120 + 1G > A/3120 + 1G > A	1	0.6

^a 4 patients with cystic fibrosis and normal sweat chloride values were excluded (sweat chloride values: 13.10 mEq/L; 21,90 mEq/L; 35.70 mEq/L; 55.30 mEq/L); ^b 1 patient with cystic fibrosis and normal sweat chloride values in 5 sweat tests was excluded (sweat chloride values: 21.60 mEq/L; 23.44 mEq/L; 24.40 mEq/L; 29.50 mEq/L; 47 mEq/L); ^c 1 patient with cystic fibrosis and normal sweat chloride value was excluded (sweat chloride value: 52.40 mEq/L); N, Sample size; CFTR, Cystic fibrosis transmembrane regulator

ISSN: 1746-1596