Table 4 Mutations detected in the SPINK 1, CFTR, CTRC genes in correlation with clinical data
From: Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis
Gene mutation | No. of patients | BMI | Alcohol abuse (≥40 g daily) | Cigarette smoking (currently) | Pancreatic diseases in family | Concomitant diseases | Recurrences |
|---|---|---|---|---|---|---|---|
SPINK1 p.N34S c.101A > G exon 3 | 12 (5.42 %) | ||||||
1 | 26.0 | Yes | No | No | None | Yes | |
2 | 20.2 | Yes | No | No | None | No | |
3 | 29.8 | No | No | None | No | ||
4 | 24.0 | No | No | No | cardiovascular diseases, atherosclerosis, Parkinson’s disease | No | |
5 | 29.4 | No | No | No | None | No | |
6 | 23.4 | Yes | Yes | No | None | Yes | |
7 | 22.4 | Yes | Yes | No | gallstones, gastroesophageal reflux disease, psychoorganic syndrome | No | |
8 | 27.7 | No | No | No | None | No | |
9 | 26.4 | No | Yes | Yes | arterial hypertension | Yes | |
10 | 25.4 | No | No | No | None | Yes | |
11 | 30.1 | Yes | Yes | No | arterial hypertension, type-2 diabetes | No | |
12 | 26.6 | Yes | No | No | None | No | |
SPINK1 p.P55S c.163C> | 2 (0.9 %) | ||||||
1 | 27.0 | Yes | No | No | None | ||
2 | 19.0 | No | No | No | cardiovascular diseases, gallstones | No | |
CFTRp.F508del (delF508) c.1521_1523 delCTT C > T exon 3 | 5 (2.3 %) | ||||||
1 | 20.2 | No | No | Yes | cardiovascular diseases | No | |
2 | 26.4 | No | No | No | arterial hypertension | Yes | |
3 | 25.6 | No | No | No | arterial hypertension | No | |
4 | 19.2 | No | No | No | pancreatic cancer | No | |
5 | 26.0 | Yes | Yes | No | None | No | |
CTRC p.V235I c.703G > A exon 7 | 2 (0.9 %) | ||||||
1 | 23.4 | Yes | Yes | No | None | No | |
2 | 22.9 | Yes | Yes | No | None | Yes | |
p.I259V c.775A > C exon 7 | 1 (0.5 %) | ||||||
1 | 27.0 | No | No | Yes | Yes | ||
p.K247_R254 delc.738_761del24 exon 7 | 1 (0.5 %) | ||||||
1 | 26.2 | No | No | No | None | No |