Genetically influenced pediatric chronic pancreatitis: Radiologic perspectives

doi:10.3748/wjg.122342

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Retrospective Study

Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Gastroenterol. Oct 14, 2026; 32(38): 122342
Published online Oct 14, 2026. doi: 10.3748/wjg.122342

Table 1 Genotype-associated cross-sectional imaging findings in patients

Case	Age/sex	Gene	Variant	Protein change	ACMG class	MRI and/or CT findings
1	11/M	SPINK1	c.194+2T>C	Splice-site	P	Pancreatic atrophy with signs of acute pancreatitis; multifocal calcifications
2	11/F	SPINK1	c.101A>G	p.Asn34Ser	LP	Normal
3	12/F	SPINK1	c.101A>G	p.Asn34Ser	LP	Pancreatic atrophy (mild)
4	13/M	SPINK1	NA	NA	NA	Pancreatic atrophy; MPD dilatation
5	15/M	PRSS1	NA	NA	NA	Pancreatic atrophy; MPD and CBD dilatation
6	17/M	PRSS1	NA	NA	NA	Acute necrotic collection; pancreatic atrophy; MPD dilatation
7	10/F	CTRC	c.649G>A	p.Gly217Ser	LP	Pancreatic atrophy; MPD dilatation
8	17/M	CTRC	c.650A>G	p.Glu217Gly	VUS	Pancreatic atrophy; acute pancreatitis; MPD dilatation
9	16/M	CTRC	NA	NA	NA	Pancreatic atrophy; CBD dilatation; acute pancreatitis
10	10/M	CFTR	c.3154T>G	p.Phe1052Val	LP	Pancreatic atrophy
11	8/M	CFTR	c.1624G>T	p.Gly542Cys	LP	Pancreatic atrophy
12	16/M	CFTR	c.3154T>G	p.Phe1052Val	LP	Pancreatic atrophy; MPD dilatation; multifocal calcifications
13	14/M	CFTR	c.1210-12T[5]	Poly-T tract	VUS	Pancreatic atrophy; acute pancreatitis
14	13/F	CFTR	c.4202A>G	p.Glu1401Gly	VUS	Pancreatic atrophy; MPD dilatation
15	9/F	CFTR	c.1521-1523delCTT/c.1210-12T[5]	p.Phe508del/-	P + VUS	Pancreatic atrophy; acute pancreatitis
16	13/M	CFTR	NA	NA	NA	Pancreatic atrophy
17	17/M	CFTR	NA	NA	NA	Acute necrotic collection; pancreatic atrophy; MPD dilatation
18	10/M	CFTR	c.1624G>T	p.Gly542Cys	LP	Pancreatic atrophy

M: Male; F: Female; NA: Not available; P: Pathogenic; LP: Likely pathogenic; VUS: Variant of uncertain significance; ACMG: American College of Medical Genetics and Genomics classification; MRI: Magnetic resonance imaging; CT: Computed tomography; CBD: Common bile duct; MPD: Main pancreatic duct.

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Table 2 Clinical and radiological characteristics of patients according to gene groups

Variables		*CFTR*		**CTRC/PRSS1**		*SPINK1*		P value
Variables		n	%	n	%	n	%	P value
Sex	M	6	66.7	2	40.0	2	50.0	0.610
Sex	F	3	33.3	3	60.0	2	50.0	0.610
Variant	LP	3	27.3	1	9.1	2	18.2	0.428
	P	1	9.1	0	0.0	1	9.1
	VUS	3	27.3	1	9.1	0	0.0
Imaging findings: MRI/CT
Pancreatic atrophy	Yes	8	88.9	4	80.0	2	50.0	0.311
Pancreatic atrophy	No	1	11.1	1	20.0	2	50.0	0.311
Acute pancreatitis	Yes	1	11.1	1	20.0	0	0.0	0.667
Acute pancreatitis	No	8	88.9	4	80.0	4	100.0	0.667
Dilatation of the CBD	Yes	0	0.0	1	20.0	0	0.0	0.273
Dilatation of the CBD	No	9	100.0	4	80.0	4	100.0	0.273
Dilatation of the MPD	Yes	4	44.4	3	60.0	1	25.0	0.587
Dilatation of the MPD	No	5	55.6	2	40.0	3	75.0	0.587
Acute necrotic collections	Yes	1	11.1	0	0.0	0	0.0	0.611
Acute necrotic collections	No	8	88.9	5	100.0	4	100.0	0.611
Multifocal pancreatic calcifications	Yes	1	11.1	0	0.0	1	25.0	0.638
Multifocal pancreatic calcifications	No	8	88.9	5	100.0	3	75.0	0.638

P values were calculated using Fisher’s exact test for two-category comparisons and the Fisher-Freeman-Halton exact test for multi-category comparisons. M: Male; F: Female; P: Pathogenic; LP: Likely pathogenic; VUS: Variant of uncertain significance; MRI: Magnetic resonance imaging; CT: Computed tomography; CBD: Common bile duct; MPD: Main pancreatic duct.

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Table 3 Clinical, laboratory, and biochemical characteristics of patients according to gene groups

Variables	*CFTR*	*CTRC/PRSS1*	*SPINK1*	H value	P value
Variables	Median (min-max)	Median (min-max)	Median (min-max)	H value	P value
Age (years)	13.00 (8-17)	16.00 (10-17)	11.50 (11-13)	3.270	0.195
Pancreatitis attacks (n)	4.00 (2-8)	3.00 (3-4)	4.00 (2-6)	1.749	0.417
Disease duration (years)	3.00 (1-7)	2.00 (1-3)	2.50 (1-3.5)	1.278	0.528
Serum amylase (U/L)	502.00 (133-2165)	1655.00 (790-3000)	1075.00 (480-1468)	5.303	0.071
Serum lipase (U/L)	1223.00 (133-2652)	1210.00 (703-1900)	700.00 (450-1614)	0.775	0.679
Total bilirubin (mg/dL)	0.40 (0.28-1.30)	0.70 (0.30-0.70)	0.70 (0.39-0.70)	1.412	0.494
Conjugated bilirubin (mg/dL)	0.12 (0.06-0.41)	0.30 (0.20-0.40)	0.30 (0.15-0.30)	4.198	0.123
ALP (U/L)	133.00 (116-433)	88.00 (65-206)	116.00 (84-130)	5.934	0.051
Serum calcium (mg/dL)	8.80 (8.6-9.2)	8.90 (8.5-9.3)	9.35 (9.1-9.4)	7.730	0.021^a
Serum phosphorus (mg/dL)	3.90 (3.1-4.7)	4.00 (3.8-4.3)	4.00 (3.6-4.0)	0.356	0.837
PTH (pg/mL)	54.40 (38.4-74.0)	62.00 (62.0-62.0)	55.65 (49.3-66.2)	0.167	0.920
25(OH)D (ng/mL)	28.00 (14-35)	26.00 (22-41)	22.00 (22-22)	1.741	0.419
Serum triglycerides (mg/dL)	100.00 (90-104)	98.00 (85-110)	100.00 (85-110)	0.021	0.990
Total cholesterol (mg/dL)	162.50 (150-198)	172.50 (130-205)	180.00 (140-180)	0.040	0.980
IgG4 (mg/dL)	76.30 (34.6-115.8)	110.00 (63.0-110.0)	51.10 (44.2-58.0)	2.431	0.297

^aP < 0.05.

P values were calculated using the Kruskal-Wallis test. For variables available for a single patient in a group, minimum and maximum values coincide. min: Minimum; max: Maximum; ALP: Alkaline phosphatase; 25(OH)D: 25-Hydroxyvitamin D; IgG4: Immunoglobulin G4; PTH: Parathyroid hormone.

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Citation: Daldaban Sarıca B, Filiz Karaman Z, Altay D, Arslan D. Genetically influenced pediatric chronic pancreatitis: Radiologic perspectives. World J Gastroenterol 2026; 32(38): 122342
URL: https://www.wjgnet.com/1007-9327/full/v32/i38/122342.htm
DOI: https://dx.doi.org/10.3748/wjg.122342

Daldaban Sarıca B, Filiz Karaman Z, Altay D, Arslan D. Genetically influenced pediatric chronic pancreatitis: Radiologic perspectives. World J Gastroenterol 2026; 32(38): 122342 [DOI: 10.3748/wjg.122342]

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