Table 1 Characteristics and CFTR response of pancreatic insufficient (CF-PI) and pancreatic sufficient (CF-PS) patients with CF and controls
CF-PI (n = 12) | CF-PS (n = 6) | CF-all (n = 18) | Controls (n = 13) | |
|---|---|---|---|---|
Age, years | 24.0 ± 6.1 | 23.3 ± 11.8 | 22.8 ± 8.0 | 30.6 ± 10.4 |
22.0 (19.0 – 26.0) | 16.0 (14.5 – 30.5) | 20.5 (18.3 – 25.3) | 25.0 (23.5 – 35.5) | |
Gender, females:males | 3:9 | 5:1 | 8:10 | 7:6 |
Body mass index Z-score | -1.18 ± 0.80 | -0.62 ± 1,41 | -0.99 ± 1.03* | 0.00 ± 0.65* |
-1.05 (-2.40 – 0.00) | 1.41 (-0.20 – 0.70) | -0.90 (-2.60 – 0.70) | 0.00 (-1.10 - 1.30) | |
Sweat chloride (mmol/l) | 110 ± 13** | 86 ± 14** | 102 ± 17* | 19 ± 8* |
106 (92 – 140) | 90 (70 – 99) | 104 (70 – 140) | 19 (10 – 36) | |
NPD CFTR response average Δ0Cl - + Iso (mV) | 4.6 ± 3.9 | 1.5 ± 4.1 | 3.6 ± 4.1* | -13.6 ± 8.5* |
5.1 (-3.0 -11.9) | 1.5 (-3.2 – 6.23) | 4.5 (-3.2 – 11.9) | -12.7 (-26.4 - -1.92) | |
ICM CFTR response average ΔIsc (μA/cm 2) ) (forskolin/IBMX + carbachol + histamine) | -0.3 ± 8.1 | 5.3 ± 10.9 | 1.6 ± 9.2* | 77.8 ± 34.8* |
-0.6 (-12.6 – 17.9) | 5.0 (-9.7 – 19.0) | 0.1 (-12.6 – 19.0) | 65.3 (39.6 -140.9) | |
Genotyping | F508/F508 (6×) | F508/R347P (2×) | 148 T/R117H-7 T | |
F508/G551D (2×) | F508/3849 + 10 kb C- > T (2×) | F508/-- | ||
F508/G542X | F508/R334W | --/-- | ||
F508/N1303K | F508/? | ND/ND (11) | ||
F508/1248 + 1G-A | ||||
F508/dele 14a,15,16,17a,17b |