Genetically influenced pediatric chronic pancreatitis: Radiologic perspectives

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.