Atypical (non-CF) diseases associated with the CFTR gene.
| Disease | Common manifestations shared with CF | Fraction of patients with at least one CFTR mutation (%) | Reference |
|---|---|---|---|
| CBAVD | absence of vas deferens (bilateral) | 73/102 (73%)a | Chillon, 1995 #305 |
| 51/68 (75%)a | J Zielenski, P Patrizio, R Asch, L-C Tsui, submitted | ||
| CUAVD | absence of vas deferens (unilateral) | 6/14 (43%)b | Mickle, 1993 #248 |
| Diffuse Bronchiectasis | abnormal dilatation of bronchi | 6/10 (60%)c | Poller, 1991 #301 |
| 6/48 (12.5%)d | Simon-Bouy, 1993 #171 | ||
| 9/28 (32%)a | Pignatti, 1994 #157 | ||
| Bronchiectasis with elevated sweat Cl- | abnormal dilatation of bronchi and high levels of sweat chloride | 5/16(31%)e | Gervais, 1993 #118 |
| Allergic bronchopulmonary aspergillosis | allergic asthma tenacious sputum mucus plugs |
6/11 (54%)d | Miller, 1994 #142 |
| Chronic Pseudomonas bronchitis | chronic sinusitis nasal polyposis |
2/10 (20%)d | Miller, 1994 #142 |
| Chronic bronchial hypersecretion | abnormal mucous secretion | 6/65 (9.2%)e | Dumur, 1990 #300 |
| Nasal polyposis | nasal polyps | 7/112 (6.2%)f | Burger, 1991 #256 |
| Neonatal transitory hypertrypsinaemia | high levels of immunoreactive trypsin (IRT) | 9/149(6%)e | Laroche, 1991 #299 |
a-The numbers are based on comprehesive screening of CFTR mutations (including IVS8:5T) by a variety of methods; b- testing of 3 mutations ([[Delta]]F508, R117H and R75Q); c- direct sequencing of exons encoding NBF1; d- the most common CFTR mutations (unspecified); e- [[Delta]]F508 only ; f- 8 mutations ([[Delta]]F508, [[Delta]]I507, D110H, R117H, 621+1G->T, N1303K, G551D and R553X).