Mutation classes(mutation 1/mutation 2) | CF-PS | CFTR dysfunction | CF unlikely |
S/S | 3 (3) | 2 (3) | 0 |
S/M | 39 (38) | 34 (58) | 0 |
S/? | 18 (17) | 5 (8) | 0 |
S/?? | 16 (16) | 7 (12) | 4 (9) |
M/M | 1 (1) | 1 (2) | 0 |
M/? | 3 (3) | 2 (3) | 0 |
M/?? | 7 (7) | 1 (2) | 1 (2) |
?/? | 5 (5) | 1 (2) | 1 (2) |
??/?? | 10 (10) | 5 (8) | 39 (87) |
?/?? | 1 (1) | 0 | 0 |
Missing mutation analysis | 0 | 1 (2) | 1 (2) |
Total n (% of group) | 103 (100) | 59 (100) | 46 (100) |
S, severe (class I–III); M, mild (class IV and V); ?, unknown class; ??, no mutation found.
Data are presented as absolute number (percentage).
CF-PS, patients with a sweat chloride value above 60 mmol/l and pancreatic sufficiency; CFTR dysfunction, patients with an intermediate sweat chloride value (30–60 mmol/l) plus two CFTR mutations detected and/or abnormal nasal potential difference; CF unlikely, patients having an intermediate sweat chloride value but no proof of CFTR dysfunction.