Table 2 Sweat chloride (mmol/L, SC), pancreatic status, age at CF and pancreatitis diagnosis, CFTR genotype and mutations in genes related to intra-pancreatic activation of trypsin (IPAT) and pancreatic secretion pathway (PSP) genes in 48 patients with CF and recurrent/chronic pancreatitis
ID | SC | Pancreatic status | Diagnosis of CF (Age) | RP/CP onset | CFTR genotype | IPAT genes | PSP genes |
|---|---|---|---|---|---|---|---|
1 | 117 | S | 19 Y | 5 Y | [delta]F508/c.2657 + 5G > A | / | / |
2 | 77 | S | 20 Y | 35 Y | N1303 K/P205S | / | / |
3 | 90 | S | 5 M | 10 Y | G85E/c.489 + 1G > T | / | TRPV1: c.755C > T (P252L) |
4 | 109 | S | 3 M | 17 Y | G542X/c.2657 + 5G > A | / | SLC4A2: c.299G > T (R109L); TRPV6: c.806C > T (T269 M) |
5 | 77 | I | 2 M | 8 M | [delta]F508/I1027T | / | PIK3CG: c.1613C > T (P538L); TMPRSS15: c.935C > T (T312I) |
6 | 84 | S | 14 Y | 26 Y | R347P/R347P | / | / |
7 | 100 | S | 2 M | 4 Y | c.2657 + 5G > A/c.2657 + 5G > A | / | / |
8 | 62 | S | 16 Y | 16 Y | [delta]F508/D110H | / | / |
9 | 109 | S | 1 M | 3 Y | N1303 K/c.2657 + 5G > A | / | / |
10 | 80 | S | 7 M | 19 Y | c.2657 + 5G > A/L1077P | / | / |
11 | 63 | S | 9 Y | 24 Y | W1282X/R347P | / | / |
12 | 92 | S | 4 M | 11 Y | [delta]F508/D579G | / | / |
13 | 66 | S | 1 M | 3 Y | c.579 + 1G > T/D1152H | / | / |
14 | 74 | S | 43 Y | 10 Y | [delta]F508/D1152H | PRSS1: c.[592-11C > T;c.592-8C > T] | / |
15 | 67 | S | 46 Y | 12 Y | [delta]F508/D1152H | PRSS1: c.[592-11C > T;c.592-8C > T] | / |
16 | 60 | S | 10 Y | 2 Y | S1297 fs*5/D993G | / | / |
17 | 90 | S | 1 Y | 4 Y | [delta]F508/I1000_A1004del | / | / |
18 | 85 | I | 5 M | 3 Y | [delta]F508/G85E | CTRC: c.514A > G (K172E) | TRPV1: c.1261C > T (R421X)• |
19 | 106 | S | 12 Y | 8 Y | N1303 K/D579G | / | / |
20 | 76 | I | 9 Y | 18 Y | [delta]F508/I1234V | / | / |
21 | 78 | S | 11 Y | 9 Y | [delta]F508/G91G | CTRC: c. 703G > A (V235I) | PRKCD: c.1501G > T (G501 W); MAP1LC3B: c.73G > C (E25Q) |
22 | 73 | S | 1 Y | 3 Y | [delta]F508/S1255P | / | / |
23 | 73 | I | 27 Y | 34 Y | Q220*/(V562I;A1006E) | PRSS2: c.292A > T (K98X) | SLC26A3: c.2276C > A (P759Q) |
24 | 88 | S | 1 Y | 17 Y | [delta]F508/D1152H | PRSS2: c.689C > T (T230I) | SLC4A4: c.976A > G (I326V) |
25 | 101 | I | 4 M | 9 Y | 1717-1G > A/R334W | PRSS2: c.571G > A (G191R) | ATP2C2: c.2381G > A (R794Q) |
26 | 100 | I | 1 M | 10 Y | 1717-1G > A/R334W | / | / |
27 | 79 | S | 25 Y | na | N1303 K/R334W | / | / |
28 | 103 | S | 21 Y | 21 Y | N1303 K/R334W | / | LAMP2: c.586A > T (T196S) |
29 | 64 | S | 4 Y | 25 Y | R553X /2789 + 5G > A | KRT8: c.184G > T (G62C) | / |
30 | 93 | S | 2 M | 6 Y | 2789 + 5G > A/2789 + 5G > A | / | / |
31 | 110 | S | 4 Y | 4 Y | [delta]F508/2789 + 5G > A | CTRC: c.649G > A (G217S) | / |
32 | 76 | S | 16 Y | na | D614G/((TG)11 T5;V562I;A1006E) | / | / |
33 | 75 | S | 50 Y | na | [delta]F508/un | CTRC: c.514A > G (K172E) | / |
34 | 69 | I | 3 M | 14 Y | N1303 K/H139R | / | / |
35 | 119 | S | 4 M | 23 Y | N1303 K/G85E | / | / |
36 | 64 | S | 17 Y | 49 Y | S549R(A > C)/R334L | / | / |
37 | 68 | S | 36 Y | 24 Y | [delta]F508/R334L | / | / |
38 | 73 | S | 3 M | 14 Y | L997F/L320 V | / | TRPV1: c.1781C > T (A594V) |
39 | 65 | I | 5 M | 5 M | [delta]F508/D110H | KRT8: c.1073C > T (A358V) | / |
40 | 110 | S | 17 Y | 32 Y | [delta]F508/S945 L | / | / |
41 | 81 | S | 35 Y | 40 Y | [delta]F508/2789 + 5G > A | KRT8: c.184G > T (G62C); PRSS1: c.592-24C > T | / |
42 | 82 | S | 14 Y | 28 Y | R347P/R347P | / | / |
43 | 91 | S | 25 Y | 30 Y | [delta]F508/2789 + 5G > A | / | / |
44 | 114 | S | 7 Y | 23 Y | [delta]F508/2789 + 5G > A | / | / |
45 | 116 | S | 1 M | 19 Y | [delta]F508/3272-26A > G | / | / |
46 | 84 | S | na | 43 Y | R1066H/T501I | / | / |
47 | 76 | I | 3 M | na | [delta]F508/S549 N | CASR: c.445G > A (V149I) | TRPV5: c.1726G > A (A576T) |
48 | 60 | S | 16 Y | 30 Y | [delta]F508/E193K | CASR: c.565A > G (N189D) | / |