Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations

• Published in: Radiology Vol. 280; no. 3; pp. 762 - 770
• Main Authors: Kim, Jin Ah, Blumenfeld, Jon D, Chhabra, Shalini, Dutruel, Silvina P, Thimmappa, Nanda Deepa, Bobb, Warren O, Donahue, Stephanie, Rennert, Hanna E, Tan, Adrian Y, Giambrone, Ashley E, Prince, Martin R
• Format: Journal Article
• Language: English
• Published: United States Radiological Society of North America 01-09-2016
• Subjects: Case-Control Studies; Female; Genotype; Glomerular Filtration Rate; Humans; Longitudinal Studies; Magnetic Resonance Imaging - methods; Male; Middle Aged; Mutation; Original Research; Pancreatic Cyst - diagnostic imaging; Pancreatic Cyst - genetics; Polycystic Kidney, Autosomal Dominant - diagnostic imaging; Polycystic Kidney, Autosomal Dominant - genetics; Prevalence; Retrospective Studies; TRPP Cation Channels - genetics
• ISSN: 0033-8419; 1527-1315
• DOI: 10.1148/radiol.2016151650

Purpose To define the magnetic resonance (MR) imaging prevalence of pancreatic cysts in a cohort of patients with autosomal dominant polycystic kidney disease (ADPKD) compared with a control group without ADPKD that was matched for age, sex, and renal function. Materials and Methods In this HIPAA-compliant, institutional review board-approved study, all patients with ADPKD provided informed consent; for control subjects, informed consent was waived. Patients with ADPKD (n = 110) with mutations identified in PKD1 or PKD2 and control subjects without ADPKD or known pancreatic disease (n = 110) who were matched for age, sex, estimated glomerular filtration rate, and date of MR imaging examination were evaluated for pancreatic cysts by using axial and coronal single-shot fast spin-echo T2-weighted images obtained at 1.5 T. Total kidney volume and liver volume were measured. Univariate and multivariable logistic regression analyses were conducted to evaluate potential associations between collected variables and presence of pancreatic cysts among patients with ADPKD. The number, size, location, and imaging characteristics of the cysts were recorded. Results Patients with ADPKD were significantly more likely than control subjects to have at least one pancreatic cyst (40 of 110 patients [36%] vs 25 of 110 control subjects [23%]; P = .027). In a univariate analysis, pancreatic cysts were more prevalent in patients with ADPKD with mutations in PKD2 than in PKD1 (21 of 34 patients [62%] vs 19 of 76 patients [25%]; P = .0002). In a multivariable logistic regression model, PKD2 mutation locus was significantly associated with the presence of pancreatic cysts (P = .0004) and with liver volume (P = .038). Patients with ADPKD and a pancreatic cyst were 5.9 times more likely to have a PKD2 mutation than a PKD1 mutation after adjusting for age, race, sex, estimated glomerular filtration rate, liver volume, and total kidney volume. Conclusion Pancreatic cysts were more prevalent in patients with ADPKD with PKD2 mutation than in control subjects or patients with PKD1 mutation. (©) RSNA, 2016 Online supplemental material is available for this article.