Table 1.
Clinical features, anatomic anomalies and genomic findings of 28 patients with SPINK1-associated chronic pancreatitis.
| Case | Age (years) | Sex | Duration of Pain (years) | Tobacco Use & Alcohol History* | Exocrine Insufficiency (Age [years] of Diagnosis) | Pancreatobiliary/Gastrointestinal Tract Anatomic Anomalies | Genotype |
|---|---|---|---|---|---|---|---|
| 1 | 26 | F | 2.1 | None | No | Pancreatic divisum | SPINK1 N34S heterozygote; CFTR T1299A heterozygote |
| 2 | 22 | F | 2.5 | None | No | Pancreatobiliary maljunction | SPINK1 N34S heterozygote |
| 3 | 35 | F | 2.7 | None | No | Pancreatic divisum | SPINK1 N34S heterozygote; CFTR G576A and R668C heterozygote |
| 4 | 5 | M | 2.8 | None | Yes (5 y/o) | None | SPINK1 N34S heterozygote |
| 5 | 18 | F | 3.0 | None | No | None | SPINK1 N34S heterozygote; CFTR M470V heterozygote |
| 6 | 48 | F | 3.3 | 45 pack year smoking history | Yes (45 y/o) | None | SPINK1 N34S heterozygote |
| 7 | 12 | M | 3.3 | None | No | None | SPINK1 N34S heterozygote; CFTR deltaF508 heterozygote |
| 8 | 8 | M | 3.3 | None | No | Pancreatic divisum | SPINK1 N34S heterozygote |
| 9 | 11 | F | 3.4 | None | No | None | SPINK1 heterozygote**; CFTR heterozygote** |
| 10 | 6 | F | 3.9 | None | Yes (4 y/o) | None | SPINK1 R67H heterozygote; CTRC G103VfsX31 heterozygote |
| 11 | 26 | F | 4.2 | None | No | Ampullary stenosis | SPINK1 N34S heterozygote |
| 12 | 27 | M | 4.3 | None | Yes (Unknown) | None | SPINK1 N34S heterozygote |
| 13 | 45 | F | 4.6 | None | Yes (43 y/o) | None | SPINK1 N34S heterozygote; CFTR R117H heterozygote |
| 14 | 14 | F | 5.7 | None | No | Pancreatic divisum | SPINK1 N34S heterozygote |
| 15 | 25 | F | 5.8 | None | No | Intestinal malrotation | SPINK1 N34S heterozygote |
| 16 | 11 | F | 6.5 | None | No | None | SPINK1 N34S heterozygote; CFTR deltaF508 heterozygote |
| 17 | 25 | F | 7.9 | None | Yes (Unknown) | None | SPINK1 N34S heterozygote; CFTR IV8–5T heterozygote |
| 18 | 18 | M | 8.1 | None | Yes (Unknown) | None | SPINK1 N34S homozygote |
| 19 | 18 | M | 9.5 | None | Unknown | None | SPINK1 N34S homozygote |
| 20 | 27 | M | 10.0 | None | Yes (Unknown) | None | SPINK1 N34S homozygote |
| 21 | 15 | F | 12.1 | None | No | None | SPINK1 N34S heterozygote; CTRC V235I heterozygote |
| 22 | 20 | M | 14.8 | None | Yes (19 y/o) | Pancreatic divisum | SPINK1 N34S heterozygote; CFTR L997F heterozygote |
| 23 | 17 | M | 14.8 | None | Yes (12 y/o) | None | SPINK1 N34S heterozygote; CFTR 394delTT heterozygote |
| 24 | 20 | F | 15.0 | None | Yes (19 y/o) | None | SPINK1 N34S heterozygote; CFTR A1285V heterozygote |
| 25 | 21 | M | 21.0 | None | Yes (17 y/o) | None | SPINK1 heterozygote**; CFTR heterozygote** |
| 26 | 41 | F | 22.4 | None | Yes (41 y/o) | None | SPINK1 N34S heterozygote |
| 27 | 24 | M | 24.0 | None | Yes (23 y/o) | None | SPINK1 heterozygote**; CFTR heterozygote** |
| 28 | 29 | F | 24.8 | None | Yes (Unknown) | Pancreatic divisum | SPINK1 N34S heterozygote |
Abbreviations: F, female; M, male.
*
Heavy alcohol consumption was defined by more than 5 drinks per day.
**
Information regarding the exact genomic alteration identified was not available.