Table 1.
Subjects diagnosed as cystic fibrosis transmembrane regulator-related disorders (CFTR-RD) by symptoms (A) or following molecular analysis in the absence of reported symptoms (B). CBAVD, congenital bilateral absence of vas deferens; CP, chronic pancreatitis; NP, nasal polyposis; RP, recurrent pancreatitis.
| Case | CFTR Genotype | Sweat Chloride (mmol/L) | Clinical Expression |
|---|---|---|---|
| Group A | |||
| 1 | W1282X/D1152H | 51 | Bronchiectasis |
| 2 | F508del/D1152H | 43 | CP |
| 3 | G542X/G85E | 43 | CP |
| 4 | F508del/[G576; R668C] | 41 | RP |
| 5 | F508del/[5T;12Tg] | 50 | RP |
| 6 | R1066C/[5T;12Tg] | 48 | CBAVD |
| 7 | F508del/D192G | 53 | Bronchiectasis |
| Group B | |||
| 1 | F508del/[R74W; D1270N] | 41 | Bronchiectasis |
| 2 | F508del/621+3A>G | 40 | Bronchiectasis |
| 3 | R1158X/[5T;12Tg] | 40 | Bronchiectasis |
| 4 | Q220X/D1152H | 38 | Bronchiectasis |
| 5 | 1717-1G>A/D1152H | 48 | CBAVD |
| 6 | F508del/D1152H | 46 | CBAVD |
| 7 | F508del/[R74W; D1270N] | 41 | CBAVD |
| 8 | F508del/[5T;12Tg] | 36 | CP |
| 9 | F508del/[5T;12Tg] | 36 | CP |
| 10 | 1717-1G>A/[G576A-R668C] | 40 | CP |
| 11 | F508del/[5T;12Tg] | 48 | CP |
| 12 | S1455X/D1152H | 47 | CP |
| 13 | V201M/D1152H | 40 | CP |
| 14 | F508del; D1168G | 40 | Metabolic alkalosis |
| 15 | D1152H/[R74W; D1270N] | 51 | Metabolic alkalosis |
| 16 | E585X/[5T;12Tg] | 47 | Metabolic alkalosis |
| 17 | I506V/[5T;12Tg] | 46 | Metabolic alkalosis |
| 18 | 2183AA>G/L684S | 51 | NP |
| 19 | L967F/3849+10KbC>T | 42 | NP |
| 20 | 2183AA>G/D1152H | 48 | NP |
| 21 | F508del/D1152H | 56 | NP |
| 22 | F508del/[5T;12Tg] | 42 | RP |
| 23 | G542X/L997F | 48 | RP |
| 24 | G542X/[5T;12Tg] | 49 | RP |
| 25 | F508del/[5T;12Tg] | 22 | Health |
| 26 | G542X/D1152H | 29 | Health |
| 27 | G542X/R74W | 24 | Health |
| 28 | N1303K/[5T;12Tg] | 30 | Health |
| 29 | F508del/[5T;12Tg] | 28 | Health |
| 30 | F508del/[R74W; D1270N] | 30 | Health |
| 31 | F508del/[5T;11Tg] | 30 | Health |
| 32 | F508del/[5T;11Tg] | 23 | Health |