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常染色体显性多囊肾病中的胰腺囊肿:患病率及与PKD2基因突变的关联

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

作者信息

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

机构信息

From the Departments of Radiology (J.K., S.C., S.P.D., N.D.T., M.R.P.), Medicine (J.D.B.), Pathology (H.E.R., A.Y.T.), and Healthcare Policy and Research (A.E.G.), Weill Cornell Medical College and New York Presbyterian Hospital, 416 E 55th St, New York, NY 10022; and the Rogosin Institute, New York, NY (J.D.B., W.O.B., S.D., H.E.R., A.Y.T.).

出版信息

Radiology. 2016 Sep;280(3):762-70. doi: 10.1148/radiol.2016151650. Epub 2016 Apr 5.

Abstract

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.

摘要

目的 确定常染色体显性遗传性多囊肾病(ADPKD)患者队列中胰腺囊肿的磁共振(MR)成像患病率,并与年龄、性别和肾功能相匹配的无ADPKD的对照组进行比较。材料与方法 在这项符合健康保险流通与责任法案(HIPAA)且经机构审查委员会批准的研究中,所有ADPKD患者均提供了知情同意书;对于对照受试者,豁免了知情同意书。对110例在PKD1或PKD2中检测到突变的ADPKD患者以及110例年龄、性别、估计肾小球滤过率和MR成像检查日期相匹配的无ADPKD或已知胰腺疾病的对照受试者,使用在1.5 T下获得的轴位和冠状位单次激发快速自旋回波T2加权图像评估胰腺囊肿情况。测量总肾体积和肝脏体积。进行单因素和多因素逻辑回归分析,以评估ADPKD患者中收集的变量与胰腺囊肿存在之间的潜在关联。记录囊肿的数量、大小、位置和成像特征。结果 ADPKD患者比对照受试者更有可能至少有一个胰腺囊肿(110例患者中有40例[36%],而110例对照受试者中有25例[23%];P = 0.027)。在单因素分析中,PKD2突变的ADPKD患者中胰腺囊肿比PKD1突变的患者更常见(34例患者中有21例[62%],而76例患者中有19例[25%];P = 0.0002)。在多因素逻辑回归模型中,PKD2突变位点与胰腺囊肿的存在(P = 0.0004)以及肝脏体积(P = 0.038)显著相关。在调整年龄、种族、性别、估计肾小球滤过率、肝脏体积和总肾体积后,有胰腺囊肿的ADPKD患者携带PKD2突变的可能性是携带PKD1突变的5.9倍。结论 与对照受试者或PKD1突变患者相比,PKD2突变的ADPKD患者中胰腺囊肿更常见。(©)RSNA,2016 本文可获取在线补充材料。

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