Table 3 Sweat chloride (mmol/L, SC), genotype of CFTR, intra-pancreatic activation of trypsin (IPAT) and pancreatic secretion pathway (PSP) genes in patients with CF without chronic pancreatitis
N | SC | Pancreatic status | Diagnosis of CF (Age) | CFTR genotype | IPAT genes (mutations) | PSP genes (mutations) |
|---|---|---|---|---|---|---|
1 | 93 | S | 25 Y | [delta]F508/ [delta]F508 | / | / |
2 | 98 | I | 14 Y | F311 L/ M348 K/ W1145X | / | TRPV1: c.381C > A (C127X) |
3 | 97 | S | 6 Y | [delta]F508/ [delta]F508 | / | / |
4 | 87 | I | 6 M | [delta]F508 / c.2046_2047insA | PRSS1/PRSS2 hybrid | ATP2C2: c.643G > T (D215Y) |
5 | 76 | S | 3 M | G542X/ N1303 K | / | / |
6 | 73 | S | 33 Y | [delta]F508 / V562I/ A1006E | / | / |
7 | 62 | S | 3 M | S977F/ N1303 K | / | / |
8 | 92 | S | 9 Y | G85E/ R334L | / | / |
9 | 76 | I | 9 M | [delta]F508/I1234V | / | / |
10 | 85 | I | 0 M | N1303 K/L1077P | / | / |
11 | 70 | S | 1 M | G542X/2184insA | / | / |
12 | 53 | S | 3 Y | [delta]F508/P5L | / | / |
13 | 79 | I | 10 Y | R347P/P5L | / | / |
14 | 135 | I | 4 M | [delta]F508/2789 + 5G > A | / | / |
15 | 99 | I | 10 M | [delta]F508/S549R | / | / |
16 | 60 | I | 2 M | [delta]F508/991delC | / | / |
17 | 87 | I | 11 Y | R709X/ L1077P | / | / |
18 | 79 | S | 4 Y | [delta]F508/ I1234V | / | |
19 | 142 | S | 0 M | Q39X/ CFTRdele4–11 | / | / |
20 | 98 | S | 4 M | [delta]F508/CFTRdele2 | / | |
21 | 98 | I | 5 Y | [delta]F508/ Q685PfsX4 | CTRC: c.649G > A (G217S) | / |
22 | 81 | I | 3 Y | [delta]F508/T338I | / | / |
23 | 80 | I | 2 M | [delta]F508/P5L | / | / |
24 | 65 | I | 2 M | G178R/ CFTRdup19 | / | / |
25 | 90 | I | 1 M | [delta]F508 L732X | / | / |
26 | 78 | I | 2 M | [delta]F508/G542X | / | / |
27 | 100 | I | 1 M | [delta]F508/2789 + 5G > A | / | / |
28 | 61 | I | 1 M | [delta]F508/N1303 K | / | / |
29 | 86 | I | 3 M | 2789 + G > A/2789 + G > A | / | / |
30 | 96 | I | 0 M | [delta]F508/N1303 K | / | / |
31 | 100 | S | 1 Y | [delta]F508/E193K | / | / |
32 | 70 | I | 6 M | [delta]F508/N1303 K | / | / |
33 | 111 | I | 46 Y | [delta]F508/N1303 K | / | / |
34 | 68 | I | 0 M | [delta]F508/4040delA | / | / |
35 | 100 | S | 33 Y | [delta]F508/ [delta]F508 | / | TRPV1: c.1790C > T (T597 M) |