TABLE 1.
Ethnicity | Sex | Pancreatitis Diagnosis Age, y | Pancreatic Function at Pancreatitis Diagnosis | Sweat Cl, mmol/L | No. Pancreatitis Attacks | Imaging | Interventions | Abnormal Chest Imaging (CT, XR) | Mutation | ||
---|---|---|---|---|---|---|---|---|---|---|---|
Exocrine | Endocrine | Chronic Features | Presence of PFC | ||||||||
Patients with CF diagnosis based on SCT >60 mmol/L | |||||||||||
Hispanic | M | 10 | PS | Normal | 71 | 2 | N | N | None | No imaging | No mutations |
White | F | 12 | PI | Normal | 68 | 1 | Y | N | ERCP | No imaging | c.3773dupT, c.5T-TG12 |
White | M | 12 | PS | Normal* | 69 | >5 | N | N | None | CT + CXR | 12TG; C.1408A > G (also NOD2 mutation) |
Hispanic | M | 16 | PI | Impaired | 65 | >5 | Y | PFC | ERCP, celiac plexus block, TPLAT | Normal | c,1521_1523del; c.617T>G† |
White | F | 16 | PI | Normal | 104 | 2 | N | PFC | ERCP | CT + CXR | C.178G > T |
African American, Asian | M | 16 | PS | Normal* | 62 | 4 | Y | N | ERCP | Normal | No mutations detected |
Hispanic | M | 20 | PS | Normal | 103 | 6 | Y | N | ERCP | Normal | c.1521 1523del; c.2657 + 5G > A† |
White | M | 26 | PS | Insulin | 95 | 4 | N | 2 PFC | None | Normal | No mutations |
Patients with CF diagnosis with 2 disease-causing mutations and intermediate sweat test (30–59 mmol/L) or no sweat test | |||||||||||
Hispanic | F | 8 | PI | Normal | 38 | 1 | Y | WON | ERCP | CT + CXR | c,1521_1523del; 12TG-5T‡ |
White | F | 13 | PI | Normal* | 38 | 6 | Y | 2 PFC | ERCP | No imaging | c3140–26A > G; c. [350G > A;1210–12T[7]† |
White | M | 14 | PS | Impaired* | 52 | >10 | Y | N | ERCP | Normal | c.1521 1523del; c.3208C > T;7 T/9 T† |
White | M | 21 | PS | Normal* | N/A | 4 | Y | N | ERCP | CT + CXR | c,1521_1523del; c.350G > A† |
White | F | 27 | PI | Insulin | N/A | >10 | N | N | ERCP | CT | c.350G > A; c,1657C>T† |
Patients with CFTR-RD (intermediate sweat test and 0–1 disease-causing mutation) | |||||||||||
White | F | 9 | PS | Normal | 47 | 2 | N | N | None | No imaging | c.3162T > A; 5T |
Hispanic | F | 10 | PS | Impaired | 57 | >10 | N | N | ERCP | Normal | (TG)l 1–5T; (TG)l 1–7T |
White | F | 10 | PI | Impaired | 57 | 4 | Y | N | ERCP, TPLAT | No imaging | No mutations detected‡ |
Hispanic | M | 16 | PS | Normal | 41 | 1 | Y | N | ERCP | No imaging | (TG)l 1–5T |
Hispanic | M | 17 | PI | Impaired* | 43 | 3 | N | 2 PFC | None | No imaging | c.601G > A |
Oral glucose tolerance test performed.
Accepted for ivacaftor use.
Positive SPINK1 mutation.
CT indicates computed tomography; CXR, chest x-ray; F, female; M, male; N/A, not available; PI, pancreatic insufficient; PS, pancreatic sufficient; WON, walled-off necrosis.