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常染色体显性遗传多囊肾病中精囊大囊泡、前列腺中位囊肿与基因型的关系。

Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease.

机构信息

Department of Radiology, Weill Cornell Medicine, New York, New York, USA.

Rogosin Institute, New York, New York, USA.

出版信息

J Magn Reson Imaging. 2019 Mar;49(3):894-903. doi: 10.1002/jmri.26289. Epub 2018 Sep 19.

DOI:10.1002/jmri.26289
PMID:30230107
Abstract

BACKGROUND

Autosomal dominant polycystic kidney disease (ADPKD) can involve prostate and seminal vesicles but the potential interrelationship of these findings and associations with PKD gene mutation locus and type is unknown.

PURPOSE

To determine the interrelationship of seminal megavesicles (seminal vesicles with lumen diameter > 10mm) and prostatic cysts in ADPKD and to determine whether there are associations with PKD gene mutations.

STUDY TYPE

Retrospective, case control.

POPULATION

Male ADPKD subjects (n = 92) with mutations in PKD1 (n = 71; 77%) or PKD2 (n = 21; 23%), and age/gender-matched controls without ADPKD (n = 92).

FIELD STRENGTH/SEQUENCE: 1.5T, axial/coronal T -weighted MR images.

ASSESSMENT

Reviewers blinded to genotype independently measured seminal vesicle lumen diameter and prevalence of cysts in prostate, kidney, and liver.

STATISTICAL TESTS

Nonparametric tests for group comparisons and univariate and multivariable logistic regression analyses to identify associations of megavesicles and prostate median cysts with mutations and renal/hepatic cyst burden.

RESULTS

Seminal megavesicles were found in 23 of 92 ADPKD (25%) subjects with PKD1 (22/71, 31%) or PKD2 (n = 1/21, 5%) mutations, but in only two control subjects (P < 0.0001). Prostate median cysts were found in 17/92 (18%) ADPKD subjects, compared with only 6/92 (7%) controls (P = 0.01), and were correlated with seminal vesicle diameters (ρ = 0.24, P = 0.02). Nonmedian prostate cyst prevalence was identical between ADPKD and controls (7/92, 8%). After adjusting for age, estimated glomerular filtration rate, and height-adjusted total kidney volume, ADPKD subjects with megavesicles were 10 times more likely to have a PKD1 than a PKD2 mutation. Among PKD1 subjects, seminal megavesicles occurred more frequently with nontruncating mutations with less severe kidney involvement.

DATA CONCLUSION

ADPKD is associated with prostate median cysts near ejaculatory ducts. These cysts correlate with seminal megavesicles (dilated to >10 mm) which predict a 10-fold greater likelihood of PKD1 vs. PKD2 mutation. Cysts elsewhere in the prostate are not related to ADPKD.

LEVEL OF EVIDENCE

2 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2019;49:894-903.

摘要

背景

常染色体显性多囊肾病(ADPKD)可累及前列腺和精囊,但这些发现的潜在相互关系以及与 PKD 基因突变座和类型的关系尚不清楚。

目的

确定 ADPKD 中巨大精囊(精囊管腔直径> 10mm)和前列腺囊肿之间的相互关系,并确定是否与 PKD 基因突变有关。

研究类型

回顾性病例对照研究。

人群

ADPKD 男性受试者(n = 92),其 PKD1 基因突变(n = 71;77%)或 PKD2 基因突变(n = 21;23%),以及年龄/性别匹配的无 ADPKD 对照组(n = 92)。

场强/序列:1.5T,轴/冠状 T 加权磁共振图像。

评估

两位对基因型不知情的评估者独立测量前列腺、肾脏和肝脏的精囊管腔直径和囊肿发生率。

统计检验

非参数检验用于组间比较,单变量和多变量逻辑回归分析用于识别巨大精囊和前列腺中央囊肿与突变以及肾脏/肝脏囊肿负担的关联。

结果

ADPKD 中 23 名(25%)PKD1(22/71,31%)或 PKD2(n = 1/21,5%)基因突变患者存在巨大精囊,而对照组仅有 2 名患者(P<0.0001)。ADPKD 受试者中有 17 名(18%)发现前列腺中央囊肿,而对照组仅 6 名(7%)(P<0.01),并且与精囊直径相关(ρ=0.24,P=0.02)。ADPKD 和对照组的非中央前列腺囊肿发生率相同(7/92,8%)。在调整年龄、估计肾小球滤过率和身高校正的总肾脏体积后,有巨大精囊的 ADPKD 患者 PKD1 突变的可能性是 PKD2 突变的 10 倍。在 PKD1 患者中,非截断突变与肾脏受累程度较轻的情况下,巨大精囊更常见。

数据结论

ADPKD 与靠近射精管的前列腺中央囊肿有关。这些囊肿与巨大精囊(扩张至> 10mm)相关,后者预示 PKD1 突变的可能性是 PKD2 突变的 10 倍。前列腺其他部位的囊肿与 ADPKD 无关。

证据水平

2 技术功效:第 2 阶段 J. Magn. Reson. Imaging 2019;49:894-903.

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